Table 4.
Number of Mutations | |||
---|---|---|---|
Disease/Phenotype | FGA | FGB | FGG |
Afibrinogenemia | 55 | 24 | 14 |
Dysfibrinogenemia | 38 | 17 | 50 |
Renal amyloidosis | 14 | 0 | 0 |
Hypofibrinogenemia | 13 | 30 | 41 |
Fibrinogen variant | 4 | 3 | 7 |
Susceptibility to venous thromboembolism | 3 | 0 | 0 |
Decreased fibrinogen levels? | 2 | 0 | 0 |
Decreased fibrinogen levels | 0 | 0 | 1 |
Hypodysfibrinogenemia | 2 | 3 | 9 |
Afibrinogenaemia? | 1 | 2 | 0 |
Afibrinogenemia/hypofibrinogenemia | 1 | 1 | 1 |
Afibrinogenemia with recurrent venous thromboembolism | 1 | 0 | 0 |
Amyloidosis, Ostertag-type | 1 | 0 | 0 |
Deep vein thrombosis? | 1 | 0 | 0 |
Dysfibrinogenemia? | 1 | 0 | 1 |
Hemorrhages | 1 | 3 | 0 |
Association with increased post-stroke mortality | 1 | 0 | 0 |
Menorrhagia | 1 | 0 | 1 |
Thrombosis | 1 | 0 | 0 |
Venous thromboembolism? | 1 | 0 | 0 |
Association with cerebral infarction | 0 | 1 | 0 |
Epistaxis | 0 | 1 | 1 |
Hypofibrinogenaemia? | 0 | 1 | 1 |
Association with increased clot stiffness | 0 | 1 | 0 |
Increased plasma fibrinogen levels | 0 | 1 | 0 |
Thrombotic tendency | 0 | 1 | 0 |
Protection against venous thromboembolism | 0 | 1 | 0 |
Increased risk for deep venous thrombosis | 0 | 0 | 1 |
Hypofibrinogenaemia with hepatic storage | 0 | 0 | 3 |
Total (public HGMD repository) | 142 | 90 | 131 |
Data were retrieved from the HGMD (http://www.hgmd.cf.ac.uk/, accessed on 20 July 2021) and references therein. Phenotypes are all those reported in such database (the question mark the uncertainty of the associated diagnosis).