IEMbase 0380: LCAT-related Familial lecithin cholesterol acyl transferase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 380 |
| Nosology | 15.4.22.01 |
| Gene | LCAT |
| External IDs | OMIM:606967; OMIM:245900; ORPHA:79292 |
| Generated mapping | UNMAPPED; low candidate Lipoyl_Transferase_1_Deficiency.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive familial lecithin cholesterol acyl transferase deficiency, with alternate names lecithin cholesterol acyl transferase deficiency and LCAT deficiency.
Clinical rows include arcus cornealis, corneal clouding/deposits, and adult kidney failure. Biochemical rows include very low fibroblast LCAT activity, very low cholesterol esterification rate, increased unesterified plasma cholesterol, low HDL cholesterol, low apolipoprotein A-I, increased adult creatinine and urinary total protein, renal biopsy findings, and serum triglyceride elevation. Treatment rows list corticosteroids, lipid-lowering drugs, kidney transplantation, and renin-angiotensin-aldosterone system blockers.
DisMech phenotype coverage
There is no exact local DisMech target for LCAT deficiency. The generated
candidate Lipoyl_Transferase_1_Deficiency.yaml is a lexical false positive:
it models LIPT1-related mitochondrial lipoylation failure with dehydrogenase
complex dysfunction, lactic acidosis, and Leigh-like encephalopathy, not LCAT
cholesterol esterification.
No current lipid disorder file captures the LCAT enzyme defect, corneal deposition, renal disease, and unesterified-cholesterol biochemical pattern as a disease-level entry.
Concordance and completeness
Judgement: true local gap; reject the lipoyl transferase candidate.
The IEMbase record is an LCAT cholesterol-esterification disorder. The local candidate is a mitochondrial protein-lipoylation disease with a different gene, pathway, clinical phenotype, and diagnostic biomarker set.
Curation actions
- Keep this record unmapped until a familial LCAT deficiency target exists.
- Do not map to
Lipoyl_Transferase_1_Deficiency.yaml. - Future curation should preserve LCAT activity, cholesterol esterification rate, unesterified cholesterol, HDL/ApoA-I, renal, corneal, and treatment rows. A later IEMbase fish-eye/partial LCAT record should be reviewed for spectrum splitting rather than collapsed silently into this note.