Bernard-soulier syndrome

Preferred Label : Bernard-soulier syndrome;

Symbol : BSS;

CISMeF acronym : BDPLT1; BSS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bleeding disorder, platelet-type, 1; Platelet glycoprotein ib deficiency; Glycoprotein ib, platelet, deficiency of; Von willebrand factor receptor deficiency; BDPLT1;

Included titles and symbols : Bernard-soulier syndrome, type a1; Bernard-soulier syndrome, type b; Bernard-soulier syndrome, type C;

Description : Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; 613160) receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5 (173511). - Genetic Heterogeneity of Platelet-Type Bleeding Disorders Inherited platelet disorders are a heterogeneous group of bleeding disorders affecting platelet number, function, or both. Functional defects can involve platelet receptors, signaling pathways, cytoskeletal proteins, granule contents, activation, or aggregation (review by Cox et al., 2011 and Nurden and Nurden, 2011). Platelet-type bleeding disorders include Bernard-Soulier syndrome (BDPLT1); Glanzmann thrombasthenia (BDPLT2; 273800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene; pseudo-von Willebrand disease (BDPLT3; 177820), caused by mutation in the GP1BA gene (606672); gray platelet syndrome (BDPLT4; 139090), caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the platelet glycoprotein Ib, beta polypeptide, gene (GP1BB, 138720.0001); Caused by mutation in the platelet glycoprotein Ib, alpha polypeptide, gene (GP1BA, 606672.0001); Caused by mutation in the platelet glycoprotein IX gene (GP9, 173515.0001);

Laboratory abnormalities : Prolonged bleeding time; Reduced platelet glycoprotein Ib complex; Normal platelet aggregation with ADP, collagen, epinephrine; Absent platelet agglutination in presence of ristocetin;

Prefixed ID : #231200;

Details

Origin ID

231200;

UMLS CUI

C0005129;

Automatic exact mappings (from CISMeF team)
- BLM wt Allele [NCIt concept]
- BSS plus [MeSH concept]
- Bachelor of Science [NCIt concept]
- Bernard-Soulier syndrome, type A [MeSH Supplementary Concept]
- Bernard-Soulier syndrome, type A [MeSH concept]
- Bernard-Soulier syndrome, type B [MeSH concept]
- Bernard-Soulier syndrome, type B [MeSH Supplementary Concept]
- Bernard-Soulier syndrome, type C [MeSH concept]
- Bernard-Soulier syndrome, type C [MeSH Supplementary Concept]
- Brooke-Spiegler syndrome [DO Concept]
- Brooke-Spiegler syndrome [MeSH concept]
- GP1BA wt Allele [NCIt concept]
- GP1BB wt Allele [NCIt concept]
- cutis gyrata syndrome of beare and stevenson [MeSH Supplementary Concept]
- glutathione-bicarbonate-Ringer solution [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Bernard Soulier syndrome [Disease (Nov.)]
- Bernard Soulier syndrome [PASCAL descriptor]
- Bernard Soulier syndrome (disorder) [SNOMED CT concept]
- Bernard-Soulier Syndrome [NCIt concept]
- Bernard-Soulier syndrome [DO Concept]
- Bernard-Soulier syndrome [ICD-11 More detail]
- Bernard-Soulier syndrome [MedDRA Preferred Term]
- Bernard-Soulier syndrome [MeSH concept]
- Bernard-Soulier syndrome [ORDO Disease]
- Bernard-Soulier syndrome [MedDRA LLT]
- Giant platelet syndrome (disorder) [SNOMED CT concept]
- bernard soulier syndrome [SNOMED Notion]
- bernard-soulier syndrome [MeSH Descriptor]
DO Cross reference
- Bernard-Soulier syndrome [DO Concept]
False automatic mappings
- Bahamas [NCIt concept]
- Bloom syndrome [ORDO Disease]
Genes related to phenotype
- Glycoprotein ib, platelet, alpha polypeptide [OMIM gene]
- Glycoprotein ib, platelet, beta polypeptide [OMIM gene]
- Glycoprotein ix, platelet [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital bleeding diathesis [HPO term]
- Congenital onset [HPO term]
- Epistaxis [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Giant platelets [HPO term]
- Gingival bleeding [HPO term]
- Impaired ristocetin-induced platelet aggregation [HPO term]
- Macrothrombocytopenia [HPO term]
- Menorrhagia [HPO term]
- Mild thrombocytopenia [HPO term]
- Prolonged bleeding after dental extraction [HPO term]
- Prolonged bleeding after surgery [HPO term]
- Prolonged bleeding time [HPO term]
- Purpura [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Bernard-Soulier syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bernard Soulier syndrome [PASCAL descriptor]
- Bernard Soulier syndrome [Disease (Nov.)]
- Bernard Soulier syndrome (disorder) [SNOMED CT concept]
- Bernard-Soulier Syndrome [NCIt concept]
- Bernard-Soulier syndrome [MedDRA LLT]
- Bernard-Soulier syndrome [ORDO Disease]
- Bernard-Soulier syndrome [MeSH concept]
- Bernard-Soulier syndrome [DO Concept]
- Bernard-Soulier syndrome [ICD-11 More detail]
- Bernard-Soulier syndrome [MedDRA Preferred Term]
- Giant platelet syndrome (disorder) [SNOMED CT concept]
- bernard soulier syndrome [SNOMED Notion]
- bernard-soulier syndrome [MeSH Descriptor]

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