| Disease Browser
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Parent Node:
 Blood Coagulation Disorders, Inherited (D025861) | Parent Node:
Blood Platelet Disorders (D001791) | Parent Node:
Hemorrhagic Disorders (D006474) | ..Starting node
.. Bernard-Soulier Syndrome (D001606)
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Child Nodes:
| | ........Bernard-Soulier Syndrome, Autosomal Dominant (C567696) | | ........Bernard-Soulier Syndrome, Type A (C565548) | | ........BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT (OMIM:153670) | | ........Bernard-Soulier Syndrome, Type B (C565549) | | ........Bernard-Soulier Syndrome, Type C (C565550) |
Sister Nodes: | ..Afibrinogenemia (D000347)  3
| ..Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells (C538539)
| ..Anti-plasmin deficiency, congenital (C537777)
| ..Antithrombin, Familial Hemorrhagic Diathesis due to (C565947)
| ..Bernard-Soulier Syndrome (D001606) 5
| ..Disseminated Intravascular Coagulation (D004211)
| ..Factor V Deficiency (D005166) 4
| ..Factor VII Deficiency (D005168)
| ..Factor X Deficiency (D005171)
| ..Factor XI Deficiency (D005173)
| ..Factor XII Deficiency (D005175)
| ..Factor XIII Deficiency (D005177) 2
| ..Hemophilia A (D006467) 5
| ..Hemophilia B (D002836)
| ..HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS (OMIM:613730)
| ..Hemostatic Disorders (D020141) 48
| ..Hypoprothrombinemias (D007020) 2
| ..Plasminogen Activator Inhibitor-1 Deficiency (C567640)
| ..Platelet Storage Pool Deficiency (D010981) 5
| ..Purpura, Thrombocytopenic, Idiopathic (D016553)
| ..Thrombasthenia (D013915) 3
| ..Thrombocythemia, Essential (D013920)
| ..Vitamin K Deficiency (D014813) 1
| ..von Willebrand Diseases (D014842) 6
| ..Waterhouse-Friderichsen Syndrome (D014884) 1
| ..Wiskott-Aldrich Syndrome (D014923) 1
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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| Term ID: | 1223 |
| Name: | Bernard-Soulier Syndrome |
| Definition: | A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption. |
| Alternative IDs: | OMIM:231200 |
| ParentIDs: | MESH:D001791|MESH:D006474|MESH:D025861 |
| TreeNumbers: | C15.378.100.100.080 |C15.378.140.120 |C15.378.463.080 |C16.320.099.080 |
| Synonyms: | BDPLT1 |Bernard Soulier Syndrome |BERNARD-SOULIER SYNDROME, TYPE B, INCLUDED |BERNARD-SOULIER SYNDROME, TYPE C, INCLUDED |BLEEDING DISORDER, PLATELET-TYPE, 1 |BSS |Deficiency of Platelet Glycoprotein 1b |Giant Platelet Syndrome |Glycoprotein Ib, Platelet, Defici |
| Slim Mappings: | Blood disease|Genetic disease (inborn) |
| Reference: |
MedGen: D001606
MeSH: D001606
OMIM: 231200;
Genes: GP1BA; GP1BB; GP9; | | Phenotypes | | | Disease Causing ClinVar Variants | | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | | NM_000174.4(GP9):c.70T>C (p.Cys24Arg) | 2815 | GP9 | Pathogenic | 28933378 | RCV000014488; RCV000177000; | N | MedGen:C0005129,OMIM:231200,ORPHA:274,SNOMED CT:234478007,SNOMED CT:54569005; MedGen:C1856448 | 3 | 128780652 | 128780652 | NM_000174.4:c.70T>C | NP_000165.1:p.Cys24Arg | NC_000003.11:g.128780652T>C | OMIM Allelic Variant:173515.0005 | C0005129 231200 Bernard Soulier syndrome; C1856448 Bernard-Soulier syndrome type C | | |
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