OBO ID: DOID:2217
Term Name: Bernard-Soulier syndrome Search Ontology:
Synonyms:
  • Bernard - Soulier thrombopathy
  • Bernard Soulier syndrome
  • Giant platelet syndrome
  • Hemorrhagic dystrophic thrombocytopenia
  • Thrombopathy, Bernard-Soulier
Definition: An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. (4)
References:
  • CSP2005:4001-0130
  • MESH:D001606
  • MTHICD9_2006:287.1
  • NCI:C84595
  • OMIM:231200
  • ORDO:274
  • SNOMEDCT_US_2018_03_01:54569005
  • UMLS_CUI:C0005129
Ontology: Human Disease   (DOID:2217)
Relationships
is a type of:
has subtype:
OTHER Bernard-Soulier syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GP1BA Bernard-Soulier syndrome, type A1 (recessive) 231200
GP1BB Giant platelet disorder, isolated 231200
Bernard-Soulier syndrome, type B 231200
GP9 Bernard-Soulier syndrome, type C 231200
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None