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IEMbase 0528: LCAT-related fish-eye disease

Scope

Field Value
IEMbase ID 528
Nosology 15.4.22.02
Gene LCAT
External IDs OMIM:136120; OMIM:606967; ORPHA:79292
Generated mapping UNMAPPED; low candidate Carnitine_Palmitoyltransferase_II_Deficiency.yaml
Candidate DisMech targets No exact local target
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents partial familial lecithin cholesterol acyl transferase deficiency, with fish-eye disease and FED as alternate labels. The record is autosomal recessive, subtype is marked idiopathic, and no treatments are listed.

Characteristic rows include decreased fibroblast LCAT activity, very low HDL cholesterol, very low apolipoprotein A-I, normal unesterified plasma cholesterol, normal cholesterol esterification rate, normal urinary protein, normal creatinine, and normal to increased serum triglycerides. Clinical characteristic rows include arcus cornealis, corneal clouding, and corneal deposits.

DisMech phenotype coverage

There is no exact local DisMech target for LCAT-related fish-eye disease. The generated candidate Carnitine_Palmitoyltransferase_II_Deficiency.yaml is a fatty-acid oxidation disorder and does not model LCAT, cholesterol esterification, ApoA-I/HDL depletion, or corneal lipid deposition.

This record is related to the earlier IEMbase LCAT deficiency gap, but it is the partial/fish-eye phenotype rather than the classic renal LCAT deficiency phenotype.

Concordance and completeness

Judgement: true local gap; reject the carnitine palmitoyltransferase II candidate.

The IEMbase record should not be collapsed into a generic lipid disorder or a fatty-acid oxidation disease. A future local LCAT entry should decide whether to model classic LCAT deficiency and fish-eye disease as subtypes or closely related spectrum records.

Curation actions

  • Keep this record unmapped until an LCAT fish-eye disease or LCAT deficiency spectrum target exists.
  • Do not map to Carnitine_Palmitoyltransferase_II_Deficiency.yaml.
  • Preserve the partial-LCAT pattern: low LCAT activity, very low HDL/ApoA-I, relatively normal renal/unesterified-cholesterol rows, and corneal clouding/deposit/arcus prompts.