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.
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Coagulation defects, purpura and other haemorrhagic conditions
Autosomal dominant
1q24.2
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.
| Subject ID | Country | Sex | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|
| 188055.1.1 | Lebanon | Hypercoagulability Hypercoagulability  | NM_000130.4:c.1601G>A | Homozygous | Kreidy et al. 2009 | Study with 25 patien... | ||
| 188055.G.1.1 | Lebanon | Deep venous thrombosis Deep venous thrombosis | NM_000506.4:c.*97G>A | Autosomal, Dominant | Taher et al. 2001 | 16 patients out of a... | ||
| 188055.G.2.1 | Lebanon | Unknown | Deep venous thrombosis Deep venous thrombosis | NM_000130.4:c.1601G>A | Homozygous | Autosomal, Dominant | Kreidy. 2012 | Group of 5 patients |
| 188055.G.2.2 | Lebanon | Unknown | Deep venous thrombosis Deep venous thrombosis | NM_000130.4:c.1601G>A | Heterozygous | Autosomal, Dominant | Kreidy. 2012 | Group of 32 patients |
| 188055.G.2.3 | Lebanon | Unknown | Deep venous thrombosis Deep venous thrombosis | NM_000130.4:c.1601G>A, NM_000506.4:c.*97G>A | Autosomal, Dominant | Kreidy. 2012 | Group of 4 patients ... | |
| 188055.G.2.4 | Lebanon | Unknown | Deep venous thrombosis Deep venous thrombosis | NM_005957.4:c.665C>T, NM_005957.4:c.1286A>C, NM_000130.4:c.1601G>A, NM_000130.4:c.3980A>G | Autosomal, Dominant | Kreidy. 2012 | 14 patients with Fac... | |
| 188055.G.3.1 | Lebanon | Hypercoagulability Hypercoagulability | NM_000130.4:c.1601G>A | Heterozygous | Autosomal, Dominant | Kreidy et al. 2009 | Study with 25 patien... | |
| 188055.G.3.2 | Lebanon | Hypercoagulability Hypercoagulability | NM_000130.4:c.1601G>A | Heterozygous | Autosomal, Dominant | Kreidy et al. 2009 | Study with 25 patien... | |
| 188055.G.3.3 | Lebanon | Hypercoagulability Hypercoagulability | NM_000130.4:c.1601G>A, NM_000506.4:c.*97G>A | Heterozygous | Autosomal, Dominant | Kreidy et al. 2009 | Study with 25 patien... |