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Heterozygous variants in the fibrinogen Aα chain gene (FGA) have been implicated in autosomal‐dominant familial visceral amyloidosis, a condition characterized by deposition of fibrinogen fragments primarily in the kidney cortex (Familial visceral amyloidosis) (MONDO:0007099). A systematic analysis of exome/genome data from ~140 000 individuals identified heterozygous FGA alleles predicted to cause dysfibrinogenemia and fibrinogen storage disease, estimating a global autosomal‐dominant fibrinogen disorder prevalence of ~11 in 1000 individuals, with carrier frequencies ranging from 1–3 per 1000 in Europeans and Africans (PMID:29240685). No individual FGA variants have yet been functionally characterized in the context of visceral amyloid deposition, and familial segregation data are lacking. Diagnostic decision‐making currently relies on population‐based prevalence estimates rather than variant‐specific clinical correlations.
Gene–Disease AssociationLimitedPrevalence estimates from a large population cohort; no variant‐level case reports ([PMID:29240685]) Genetic EvidenceLimitedOnly heterozygous carrier frequencies and prevalence estimates are reported; no specific probands or segregation data ([PMID:29240685]) Functional EvidenceNoneNo functional or experimental data linking FGA variants to visceral amyloid deposition have been published |