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Bleeding diathesis due to a collagen receptor defect

Disease definition

Bleeding diathesis due to a collagen receptor defect is a rare, genetic coagulation disorder characterized by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia.


  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: D69.8
  • OMIM: 614200  614201
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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