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Bernard-Soulier syndrome

Disease definition

A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.

ORPHA:274

Classification level: Disorder
  • Synonym(s):
    • Giant platelet syndrome
    • Hemorrhagiparous thrombocytic dystrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D69.1
  • ICD-11: 3B62.01
  • OMIM: 153670  231200
  • UMLS: C0005129
  • MeSH: D001606
  • GARD: 2470
  • MedDRA: 10057473

  A summary on this disease is available in Deutsch (2006) Italiano (2006) Español (2014) Français (2014) Nederlands (2014) Polski ()

Detailed information

Guidelines

Disease review articles

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.