IEMbase 0378: ABCA1-related Tangier disease
Scope
| Field | Value |
|---|---|
| IEMbase ID | 378 |
| Nosology | 15.4.23.01 |
| Gene | ABCA1 |
| External IDs | OMIM:600046; OMIM:205400; ORPHA:31150 |
| Generated mapping | MAPPED; Tangier_Disease.yaml |
| Candidate DisMech targets | Tangier_Disease.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents ABCA1-related Tangier disease, with alternate name primary familial hypoalphalipoproteinemia and abbreviation TD/FHA. Inheritance is autosomal recessive.
Clinical rows include hepatosplenomegaly, enlarged orange tonsils, and peripheral neuropathy. Biochemical rows include serum cholesterol, plasma HDL cholesterol, serum triglyceride, and apolipoprotein A-I level. There are no treatment rows.
DisMech phenotype coverage
The generated mapping to Tangier_Disease.yaml is correct. Local DisMech
models biallelic ABCA1 pathogenic variants, impaired apolipoprotein-mediated
cholesterol and phospholipid efflux, failure of HDL biogenesis, severe HDL-C
and ApoA-I depletion, tissue cholesteryl ester accumulation, orange tonsils,
hepatosplenomegaly, peripheral neuropathy, corneal opacity, cardiovascular risk,
dietary risk management, lipid-lowering treatment for ASCVD risk, and
tonsillectomy for obstructive tonsillar disease.
Local coverage is stronger for ABCA1 mechanism, reverse cholesterol transport, HDL biogenesis, tissue storage, and management. IEMbase is a concise high-specificity phenotype and biomarker summary.
Concordance and completeness
Judgement: correct mapping with high concordance.
The resources agree on ABCA1 identity, autosomal recessive inheritance, Tangier disease identity, orange tonsils, hepatosplenomegaly, peripheral neuropathy, low HDL cholesterol, low total cholesterol context, triglyceride abnormalities, and low apolipoprotein A-I. IEMbase lacks treatment rows, while local DisMech captures supportive/risk-directed management.
Curation actions
- Keep the generated mapping to
Tangier_Disease.yaml. - Consider future enrichment with concise IEMbase wording for enlarged orange tonsils, serum cholesterol, serum triglyceride, HDL cholesterol, and apolipoprotein A-I rows after source verification.
- Do not import absent IEMbase treatments as negative evidence, because local supportive and risk-directed management is already curated.