IEMbase 0368: APOB-related familial defective apolipoprotein B
Scope
| Field | Value |
|---|---|
| IEMbase ID | 368 |
| Nosology | 15.1.03.01 |
| Gene | APOB |
| External IDs | OMIM:144010; ORPHA:391665 |
| Generated mapping | UNMAPPED; low candidate Familial_Hypercholesterolemia.yaml |
| Candidate DisMech targets | Familial_Hypercholesterolemia.yaml#APOB-LDLR Binding Defect |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents APOB-related familial defective apolipoprotein B, with alternate names autosomal dominant hypercholesterolemia type 2 (binding-defective apo B) and autosomal dominant hypercholesterolemia type B. It is listed as an autosomal dominant disorder.
Characteristic rows include plasma Apo B, arcus cornealis, plasma LDL cholesterol, serum triglyceride, xanthelasma, and tendon xanthomas. Additional clinical rows include carotid bruits, femoral bruits, and myocardial ischemia. Biochemical rows include plasma Apo B, plasma HDL cholesterol, plasma LDL cholesterol, and serum triglyceride. Treatment rows include fibrates, low-fat diet, and statins.
DisMech phenotype coverage
The generated UNMAPPED status is a false negative. DisMech has a Familial Hypercholesterolemia file that explicitly covers APOB as an FH gene and includes an APOB-LDLR binding-defect mechanism. Local mechanism describes defective LDL particle binding to the LDL receptor, impaired receptor-mediated LDL clearance, elevated LDL-C, xanthomas, and premature ASCVD risk.
Local coverage is stronger for the APOB-LDLR binding mechanism and broader FH management context. IEMbase is stronger for specimen-specific Apo B, HDL, LDL, and triglyceride rows.
Concordance and completeness
Judgement: false negative; resolve to the local familial hypercholesterolemia APOB binding-defect context.
The resources agree on APOB identity, autosomal dominant inheritance, familial defective apolipoprotein B/autosomal dominant hypercholesterolemia type 2, elevated LDL cholesterol, tendon xanthomas, corneal arcus, xanthelasma, and ischemic atherosclerotic complications.
Curation actions
- Map this record to
Familial_Hypercholesterolemia.yaml, specifically the APOB-LDLR binding-defect context. - Consider future enrichment with carotid bruits, femoral bruits, Apo B, HDL cholesterol, and triglyceride rows after source verification.
- Review the IEMbase fibrate treatment row carefully before import, because the core APOB/FH management target is LDL lowering and fibrates may reflect mixed-lipid context rather than the primary disease mechanism.