IEMbase 0508: ABCG5-related sitosterolemia
Scope
| Field | Value |
|---|---|
| IEMbase ID | 508 |
| Nosology | 15.1.08.01 |
| Gene | ABCG5 |
| External IDs | OMIM:210250; ORPHA:2882 |
| Generated mapping | UNMAPPED; no candidate |
| Candidate DisMech targets | No exact local target found |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive ABCG5-related sitosterolemia, also named phytosterolemia. No treatments are listed. Biochemical rows include normal HDL cholesterol, markedly increased neonatal/infant LDL cholesterol with persistent LDL elevation later in life, normal serum triglyceride, and positive plasma sitosterols. Clinical rows include xanthelasma, xanthomas, carotid bruits, femoral bruits, and adult myocardial ischemia.
DisMech phenotype coverage
No exact local target was found for sitosterolemia, ABCG5, ABCG8, or
phytosterolemia. Hyperlipidemia.yaml provides only generic dyslipidemia and
atherosclerotic context: it models elevated LDL and triglyceride-rich
lipoproteins, downstream vascular injury, coronary artery disease, and
lipid-lowering therapies, but it does not model plant sterol accumulation,
ABCG5/ABCG8 sterol transporter dysfunction, normal triglycerides with elevated
sitosterols, childhood xanthomas, or sitosterolemia as a distinct recessive
metabolic disorder.
Concordance and completeness
Judgement: true local gap.
The IEMbase record is not merely broad hyperlipidemia; it is a sterol-transport disorder with plasma sitosterols as a diagnostic biochemical marker and an autosomal recessive ABCG5 gene anchor. The local KB lacks this mechanism and should not use nonspecific hyperlipidemia coverage as a substitute.
Curation actions
- Track ABCG5-related sitosterolemia / phytosterolemia as a local curation gap.
- Preserve IEMbase prompts for plasma sitosterols, early marked LDL elevation, normal triglycerides, xanthomas/xanthelasma, bruits, and myocardial ischemia.
- When the corresponding ABCG8 IEMbase record is reviewed, evaluate whether ABCG5 and ABCG8 should share one sitosterolemia entry with gene-specific branches rather than separate disease files.