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Bernard-Soulier syndrome
Bernard-Soulier syndrome
Classification & external resources
| ICD-10 |
D69.1 |
| ICD-9 |
287.1 |
| OMIM |
231200 |
| DiseasesDB |
1356 |
| eMedicine |
ped/230 |
| MeSH |
D001606 |
Bernard-Soulier syndrome (BSS, named after Jean Bernard and Jean Pierre Soulier) is a genetic deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor that is important in clot formation. It presents as a bleeding disorder due to the inability of platelets to bind and aggregate at sites of vascular endothelial injury. A good website for more information is www.B-SS.org.
See also
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Pathology: hematology (primarily C81-C96/200-208, D45-D47, D50-D77/280-289) |
| WBCs |
hematological malignancy (lymphoma, leukemia, multiple myeloma), myeloproliferative disease, myelodysplastic syndrome
-cytosis (Agranulocytosis, Leukocytosis, Lymphocytosis, Monocytosis) • -penia (Lymphopenia, Neutropenia) |
RBCs/anemia/
hemoglobinopathy |
nutritional anemia: Iron deficiency anemia, Plummer-Vinson syndrome, Megaloblastic anemia (Pernicious anemia)
hereditary hemolytic anemia: G6PD Deficiency, Thalassemia, Sickle-cell disease/trait, Hereditary spherocytosis, Hereditary elliptocytosis, Hereditary stomatocytosis
acquired hemolytic anemia: Autoimmune (Warm), HUS, MAHA, PNH, PCH
aplastic anemia: Acquired PRCA, Diamond-Blackfan anemia, Fanconi anemia • Sideroblastic anemia • Hemochromatosis |
| Coagulation/platelets |
coagulopathy: DIC • Hemophilia (A/VII, B/IX, C/XI, XIII) • Von Willebrand disease
Purpura: Henoch-Schönlein, ITP (Evans syndrome), TTP
primary hypercoagulable state: Protein C deficiency - Protein S deficiency - Antithrombin III deficiency - Antiphospholipid syndrome - Factor V Leiden
other hemorrhagic conditions: Bernard-Soulier syndrome - Glanzmann's thrombasthenia - Grey platelet syndrome |
| Histiocytosis |
WHO-I Langerhans cell histiocytosis - non-Langerhans-cell histiocytosis/WHO-II (Juvenile xanthogranuloma, Hemophagocytic lymphohistiocytosis) - malignant histiocytic disorders/WHO-III (Acute monocytic leukemia, Malignant histiocytosis, Erdheim-Chester disease) |
| Other |
Asplenia/hyposplenism - Methemoglobinemia |
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This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Bernard-Soulier_syndrome". A list of authors is available in Wikipedia.
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