Thrombophilia due to Activated Protein C Resistance

Alternative Names

  • THPH2
  • Activated Protein C Resistance
  • APC Resistance
  • Thrombophilia due to Deficiency of Activated Protein C Cofactor
  • PROC Cofactor Deficiency
  • PCCF Deficiency
  • Thrombophilia V
  • Thrombophilia due to Factor V Leiden

Associated Genes

Coagulation Factor V
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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

188055

Mode of Inheritance

Autosomal dominant

Gene Map Locus

1q24.2

Description

Thrombophilia due to activated protein C resistance is due to a mutation in the F5 gene that renders factor V resistant to cleavage and inactivation by activated protein C and results in a tendency to have thrombosis.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
188055.1.1Lebanon HypercoagulabilityNM_000130.4:c.1601G>AHomozygousKreidy et al. 2009 Study with 25 patien...
188055.G.1.1Lebanon Deep venous thrombosisNM_000506.4:c.*97G>AAutosomal, DominantTaher et al. 2001 16 patients out of a...
188055.G.2.1LebanonUnknown Deep venous thrombosisNM_000130.4:c.1601G>AHomozygousAutosomal, DominantKreidy. 2012 Group of 5 patients
188055.G.2.2LebanonUnknown Deep venous thrombosisNM_000130.4:c.1601G>AHeterozygousAutosomal, DominantKreidy. 2012 Group of 32 patients
188055.G.2.3LebanonUnknown Deep venous thrombosisNM_000130.4:c.1601G>A, NM_000506.4:c.*97G>AAutosomal, DominantKreidy. 2012 Group of 4 patients ...
188055.G.2.4LebanonUnknown Deep venous thrombosisNM_005957.4:c.665C>T, NM_005957.4:c.1286A>C, NM_000130.4:c.1601G>A, NM_000130.4:c.3980A>GAutosomal, DominantKreidy. 2012 14 patients with Fac...
188055.G.3.1Lebanon HypercoagulabilityNM_000130.4:c.1601G>AHeterozygousAutosomal, DominantKreidy et al. 2009 Study with 25 patien...
188055.G.3.2Lebanon HypercoagulabilityNM_000130.4:c.1601G>AHeterozygousAutosomal, DominantKreidy et al. 2009 Study with 25 patien...
188055.G.3.3Lebanon HypercoagulabilityNM_000130.4:c.1601G>A, NM_000506.4:c.*97G>AHeterozygousAutosomal, DominantKreidy et al. 2009 Study with 25 patien...
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