IEMbase 0375: CETP-related cholesteryl ester transfer protein deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 375 |
| Nosology | 15.4.26.01 |
| Gene | CETP |
| External IDs | OMIM:607322; OMIM:143470; ORPHA:79506 |
| Generated mapping | UNMAPPED; low candidate Cholesteryl_Ester_Storage_Disease.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents CETP-related cholesteryl ester transfer protein deficiency, also listed as familial hyperalphalipoproteinemia type 1 and CETP deficiency. Inheritance is autosomal dominant.
The cached record has no clinical rows or treatment rows. Biochemical rows include serum cholesterol, plasma HDL cholesterol, and serum triglyceride.
DisMech phenotype coverage
There is no exact local DisMech target for CETP deficiency. The generated low
candidate Cholesteryl_Ester_Storage_Disease.yaml is a lexical false positive:
that file models LIPA-related lysosomal acid lipase deficiency with lysosomal
storage of cholesteryl esters and triglycerides in hepatocytes and macrophages.
It does not model CETP-mediated transfer of cholesteryl esters between
lipoprotein classes or familial hyperalphalipoproteinemia.
General hyperlipidemia content may provide lipid-metabolism context, but it does not replace a gene-specific CETP deficiency entry.
Concordance and completeness
Judgement: true local gap; reject the cholesteryl ester storage disease candidate.
The IEMbase disease is a circulating lipoprotein-transfer disorder, whereas CESD is an autosomal recessive lysosomal hydrolase deficiency caused by LIPA. The shared "cholesteryl ester" words are insufficient for disease mapping.
Curation actions
- Keep this record unmapped until a CETP deficiency or familial hyperalphalipoproteinemia target exists.
- Do not map to
Cholesteryl_Ester_Storage_Disease.yaml. - If curated, include CETP, high-HDL/familial hyperalphalipoproteinemia scope, and the serum cholesterol/HDL/triglyceride biochemical pattern.