Familial visceral amyloidosis, Ostertag type: genes and variants
Familial visceral amyloidosis, Ostertag type is linked to 2 analyzed proteins (FGA and APOA1). 2 DNA variants are known to cause it; 69 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Familial visceral amyloidosis, Ostertag type
FGA: Fibrinogen alpha chain
It contributes the alpha chains of fibrinogen, which thrombin converts into fibrin to form the structural mesh of blood clots. Pathogenic variants can cause afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, thrombosis, or certain hereditary amyloidoses.
2 disease-causing and 61 uncertain variants in FGA are linked to Familial visceral amyloidosis, Ostertag type.
APOA1: Apolipoprotein A-I
It is the principal protein scaffold of HDL and activates LCAT, supporting cholesterol efflux from peripheral tissues and reverse cholesterol transport. Pathogenic variants can cause very low HDL cholesterol, familial amyloidosis in some alleles, or altered cardiovascular risk.
0 disease-causing and 8 uncertain variants in APOA1 are linked to Familial visceral amyloidosis, Ostertag type.
Known disease-causing variants in Familial visceral amyloidosis, Ostertag type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGA R573C | 573 | Coiled coil | Disease-causing (★★) |
| FGA E545V | 545 | Coiled coil | Disease-causing (★★) |
Diseases related to Familial visceral amyloidosis, Ostertag type
- Hypertrophic cardiomyopathy, also linked to FGA
- Noonan syndrome, also linked to FGA
- Costello syndrome, also linked to FGA
- Familial dysfibrinogenemia, also linked to FGA
- Afibrinogenemia, also linked to FGA
- Hypoalphalipoproteinemia, primary, 1, also linked to APOA1
- Deep venous thrombosis, also linked to FGA
- Familial amyloid polyneuropathy, Iowa type, also linked to APOA1
- Hypoalphalipoproteinemia, primary, 2, intermediate, also linked to APOA1
Frequently asked questions
Which genes are linked to Familial visceral amyloidosis, Ostertag type?
In CATVariant, Familial visceral amyloidosis, Ostertag type is linked to 2 analyzed proteins: FGA (Fibrinogen alpha chain) and APOA1 (Apolipoprotein A-I).
How many genetic variants are linked to Familial visceral amyloidosis, Ostertag type?
74 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 69 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial visceral amyloidosis, Ostertag type look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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