Familial amyloid polyneuropathy, Iowa type: genes and variants
Familial amyloid polyneuropathy, Iowa type is linked to 1 analyzed protein (APOA1). 5 DNA variants are known to cause it; 14 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 amyloid polyneuropathy, Iowa 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.
5 disease-causing and 14 uncertain variants in APOA1 are linked to Familial amyloid polyneuropathy, Iowa type.
Known disease-causing variants in Familial amyloid polyneuropathy, Iowa type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| APOA1 G50R | 50 | Disease-causing (★★) | |
| APOA1 L84R | 84 | 1 | Disease-causing |
| APOA1 R173P | 173 | 6 | Disease-causing |
| APOA1 L198S | 198 | 7 | Disease-causing |
| APOA1 A199P | 199 | 7 | Disease-causing |
Same protein, different disease
- Hypoalphalipoproteinemia, primary, 1 is also caused by APOA1 variants; they fall mostly in different places as the Familial amyloid polyneuropathy, Iowa type variants (4 disease-causing).
Diseases related to Familial amyloid polyneuropathy, Iowa type
- Hypoalphalipoproteinemia, primary, 1, also linked to APOA1
- Familial visceral amyloidosis, Ostertag type, also linked to APOA1
- Hypoalphalipoproteinemia, primary, 2, intermediate, also linked to APOA1
Frequently asked questions
Which genes are linked to Familial amyloid polyneuropathy, Iowa type?
In CATVariant, Familial amyloid polyneuropathy, Iowa type is linked to 1 analyzed protein: APOA1 (Apolipoprotein A-I).
How many genetic variants are linked to Familial amyloid polyneuropathy, Iowa type?
19 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 14 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial amyloid polyneuropathy, Iowa 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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