IEMbase 0376: LIPC-related hepatic lipase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 376 |
| Nosology | 15.3.19.01 |
| Gene | LIPC |
| External IDs | OMIM:612797; OMIM:614025; ORPHA:140905 |
| Generated mapping | UNMAPPED; low candidate Hepatic_Veno-occlusive_Disease-Immunodeficiency_Syndrome.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents LIPC-related hepatic lipase deficiency, also listed as HL deficiency. Inheritance is autosomal recessive.
Clinical rows include coronary artery disease and myocardial ischemia. Biochemical rows include post-heparin hepatic lipase activity, serum cholesterol, plasma HDL cholesterol, broad-beta lipoprotein electrophoresis, and serum triglyceride. There are no treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for LIPC-related hepatic lipase
deficiency. The generated low candidate
Hepatic_Veno-occlusive_Disease-Immunodeficiency_Syndrome.yaml is a lexical
false positive: that file models SP110-related primary immunodeficiency with
hepatic sinusoidal/terminal venular occlusion and fibrosis. It does not model
hepatic lipase activity, LIPC, lipoprotein remodeling, broad-beta
lipoproteinemia, or hyperalphalipoproteinemia.
Local atherosclerotic disease files may provide downstream cardiovascular context, but they are not valid disease mappings for the inherited lipase defect.
Concordance and completeness
Judgement: true local gap; reject the hepatic veno-occlusive disease candidate.
The IEMbase record is a lipoprotein-metabolism disorder caused by LIPC, whereas the generated candidate is an immunodeficiency/liver vascular-occlusion syndrome caused by SP110. The shared word "hepatic" is not sufficient for mapping.
Curation actions
- Keep this record unmapped until a LIPC hepatic lipase deficiency target exists.
- Do not map to
Hepatic_Veno-occlusive_Disease-Immunodeficiency_Syndrome.yaml. - If curated, prioritize hepatic lipase activity after heparin, broad-beta lipoprotein electrophoresis, high HDL cholesterol, cholesterol/triglyceride abnormalities, and coronary disease risk.