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Congenital factor XI deficiency

Disease definition

Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.

ORPHA:329

  • Synonym(s):
    • Hemophilia C
    • PTA deficiency
    • Plasma thromboplastin antecedent deficiency
    • Rosenthal factor deficiency
    • Rosenthal syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D68.1
  • OMIM: 612416
  • UMLS: C0015523
  • MeSH: -
  • GARD: 9670
  • MedDRA: -

Detailed information

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Additional information

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