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. 2021 Nov 19;11(11):2140. doi: 10.3390/diagnostics11112140

Table 4.

Distribution of mutations in the FGA, FGB, and FGG genes according to the associated phenotype.

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).