IEMbase 0379: APOA1-related Apolipoprotein A-I deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 379 |
| Nosology | 15.4.24.01 |
| Gene | APOA1 |
| External IDs | OMIM:107680; ORPHA:93560 |
| Generated mapping | UNMAPPED; no candidate |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents APOA1-related apolipoprotein A-I deficiency, also listed as hypoalphalipoproteinemia. Inheritance is listed as autosomal dominant.
Clinical rows are sparse and adult-focused, including coronary artery disease and xanthelasma. Biochemical rows emphasize normal serum cholesterol, very low plasma HDL cholesterol, normal-to-increased serum triglyceride in adolescence and adulthood, and very low apolipoprotein A-I level. There are no treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for APOA1-related apolipoprotein A-I
deficiency. Tangier_Disease.yaml overlaps on the low HDL cholesterol, low
apolipoprotein A-I, and hypoalphalipoproteinemia vocabulary, but it models
biallelic ABCA1-related Tangier disease with ABCA1-mediated HDL biogenesis
failure, orange tonsils, tissue cholesteryl ester storage, hepatosplenomegaly,
and peripheral neuropathy. That is not the same disease mechanism as primary
APOA1 deficiency.
The separate APOA1 amyloidosis record in IEMbase maps to amyloidosis context, but that does not provide a lipid-deficiency target for this record.
Concordance and completeness
Judgement: true local gap; keep unmapped.
The IEMbase disease is a primary APOA1 apolipoprotein deficiency with very low HDL/ApoA-I and adult coronary/xanthelasma findings. The closest local lipid entries are mechanistically different and should not absorb this record just because they share hypoalphalipoproteinemia or low ApoA-I terms.
Curation actions
- Keep this record unmapped until an APOA1/apolipoprotein A-I deficiency target exists.
- Do not map to
Tangier_Disease.yaml; use Tangier only as differential lipid context. - If curated, include autosomal dominant inheritance, HDL cholesterol, apolipoprotein A-I level, triglyceride directionality, coronary artery disease, and xanthelasma as review prompts.