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Congenital factor XIII deficiency

Disease definition

Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.

ORPHA:331

  • Synonym(s):
    • Fibrin-stabilizing factor deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Not applicable 
  • Age of onset: All ages
  • ICD-10: D68.2
  • OMIM: 613225  613235
  • UMLS: C0015530
  • MeSH: -
  • GARD: 10766
  • MedDRA: -

Detailed information

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