Factor XI Deficiency

Alternative Names

  • F11 Deficiency
  • Plasma Thromboplastin Antecedent Deficiency
  • PTA Deficiency
  • Rosenthal Syndrome
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

OMIM Number

612416

Mode of Inheritance

Autosomal recessive Autosomal dominant

Gene Map Locus

4q35.2

Description

Factor XI deficiency is an autosomal bleeding disorder characterized by reduced levels of Factor XI in plasma (less than 15 IU/dL). Bleeding occurs mainly after trauma or surgery. [From OMIM] 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
612416.1.1LebanonFemaleNoYes Asymptomatic; Prolonged partial thrombo... NM_000128.3:c.1778C>THomozygousAutosomal, RecessiveGermanos-Haddad et al, 2005
612416.G.1LebanonUnknown Reduced factor XI activity... NM_000128.3:c.403G>THomozygousAutosomal, RecessiveGermanos-Haddad et al, 2005 Group of 6 patients
612416.G.2LebanonUnknown Reduced factor XI activity... NM_000128.3:c.403G>THeterozygousAutosomal, DominantGermanos-Haddad et al, 2005 Group of 2 patients
612416.2.1LebanonUnknown Reduced factor XI activity... NM_000128.3:c.1557G>CHomozygousAutosomal, RecessiveGermanos-Haddad et al, 2005
612416.3.1LebanonFemaleYesNo Prolonged partial thromboplastin time; ... NM_000128.3:c.1557G>CHomozygousAutosomal, Recessivede Moerloose et al, 2004 Proband
612416.4.1LebanonMale Reduced factor XI activity (severe)... NM_000128.3:c.1060G>A, NM_000128.3:c.682C>THeterozygousAutosomal, RecessiveQuélin et al, 2004
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