Familial type 3 hyperlipoproteinemia: genes and variants
Familial type 3 hyperlipoproteinemia is linked to 1 analyzed protein (APOE). 10 DNA variants are known to cause it; 6 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 type 3 hyperlipoproteinemia
APOE: Apolipoprotein E
It redistributes cholesterol and other lipids between tissues by directing remnant lipoproteins to LDL-receptor-family members. The common epsilon4 isoform strongly increases late-onset Alzheimer disease risk and also influences plasma lipids and cardiovascular risk.
10 disease-causing and 6 uncertain variants in APOE are linked to Familial type 3 hyperlipoproteinemia.
Where Familial type 3 hyperlipoproteinemia variants cluster
- APOE 4 (positions 146–167): 5 of 10 disease-causing changes, 7.2× more than its size predicts.
Known disease-causing variants in Familial type 3 hyperlipoproteinemia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| APOE R154S | 154 | 4 | Disease-causing (★★★★) |
| APOE R154H | 154 | 4 | Disease-causing (★) |
| APOE R160C | 160 | 4 | Disease-causing (★) |
| APOE G183A | 183 | 5 | Disease-causing (★) |
| APOE R163C | 163 | 4 | Disease-causing |
| APOE K164E | 164 | 4 | Disease-causing |
| APOE E31K | 31 | Disease-causing | |
| APOE R176C | 176 | 5 | Disease-causing |
| APOE R269G | 269 | Homooligomerization | Disease-causing |
| APOE C130R | 130 | 3 | Disease-causing |
Diseases related to Familial type 3 hyperlipoproteinemia
- Familial hypercholesterolemia, also linked to APOE
- Alzheimer disease, also linked to APOE
- Type 2 diabetes mellitus, also linked to APOE
- Age related macular degeneration 9, also linked to APOE
- Hyperlipoproteinemia, also linked to APOE
- Diabetes mellitus, also linked to APOE
- Lewy body dementia, also linked to APOE
- Myocardial infarction, also linked to APOE
- Dementia, also linked to APOE
- Early-onset autosomal dominant Alzheimer disease, also linked to APOE
- Lipoprotein glomerulopathy, also linked to APOE
Frequently asked questions
Which genes are linked to Familial type 3 hyperlipoproteinemia?
In CATVariant, Familial type 3 hyperlipoproteinemia is linked to 1 analyzed protein: APOE (Apolipoprotein E).
How many genetic variants are linked to Familial type 3 hyperlipoproteinemia?
16 variants: 10 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Familial type 3 hyperlipoproteinemia 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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