x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.

ORPHA:73271

  • 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

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.