IEMbase 0507: APOE-related dysbetalipoproteinemia
Scope
| Field | Value |
|---|---|
| IEMbase ID | 507 |
| Nosology | 15.3.13.01 |
| Gene | APOE |
| External IDs | OMIM:617347; ORPHA:412 |
| Generated mapping | UNMAPPED; no candidate |
| Candidate DisMech targets | Partial context in Hyperlipidemia.yaml and Sea-Blue_Histiocyte_Syndrome.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive APOE-related apolipoprotein E deficiency as dysbetalipoproteinemia / hyperlipoproteinemia type 3. Treatment rows include atorvastatin, bezafibrate, ciprofibrate, ezetimibe, fenofibrate, gemfibrozil, lipid-lowering diet, nicotinic acid, rosuvastatin, and simvastatin. Biochemical rows include adult markedly increased serum cholesterol, normal-to-low HDL cholesterol, positive broad beta lipoprotein electrophoresis, and increased serum triglyceride. Clinical rows include palmar xanthomas, tuberoeruptive xanthomas, carotid bruits, femoral bruits, intermittent claudication, myocardial ischemia, and sea-blue histiocytes.
DisMech phenotype coverage
No exact local target was found. Hyperlipidemia.yaml provides partial context:
it models broad dyslipidemia, apoB-containing lipoprotein/remnant biology,
atherogenic vascular consequences, statins, fibrates, ezetimibe, lifestyle
management, and an APOE genetic note that APOE e2 can cause type III
hyperlipoproteinemia. However, the entry does not define a dysbetalipoproteinemia
or hyperlipoproteinemia type III subtype and does not model broad beta
electrophoresis, palmar/tuberoeruptive xanthomas, or APOE deficiency as an exact
Mendelian/oligogenic disease entity.
Sea-Blue_Histiocyte_Syndrome.yaml also provides partial context because it
models APOE-associated primary sea-blue histiocytosis and hypertriglyceridemia,
but that entry is about lipid-laden marrow histiocytes and primary sea-blue
histiocyte syndrome rather than familial dysbetalipoproteinemia.
Concordance and completeness
Judgement: partial local context only; exact APOE dysbetalipoproteinemia local gap.
The current KB can explain several downstream lipid and vascular consequences, but it lacks the disease identity that IEMbase is asking for: APOE-related dysbetalipoproteinemia / type III hyperlipoproteinemia with remnant lipoprotein accumulation and broad beta electrophoresis. The sea-blue histiocyte signal should be handled carefully because it can be a feature or related morphology, but the existing APOE sea-blue histiocytosis entry is not the same disease.
Curation actions
- Do not map this record as fully covered by
Hyperlipidemia.yamlorSea-Blue_Histiocyte_Syndrome.yaml. - Track APOE-related dysbetalipoproteinemia / hyperlipoproteinemia type III as an exact local gap or as a potential new subtype under the hyperlipidemia entry after scope review.
- Preserve IEMbase prompts for broad beta electrophoresis, palmar and tuberoeruptive xanthomas, intermittent claudication, bruits, myocardial ischemia, sea-blue histiocytes, and the listed lipid-lowering therapies.