Diseases

Lecithin Cholesterol Acyltransferase Deficiency

An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

16 entry terms
  • LCAT Deficiency
  • LCATA Deficiency
  • Lecithin:Cholesterol Acyltransferase Deficiency
  • Norum Disease
  • alpha-LCAT Deficiency
  • alpha-Lecithin-Cholesterol Acyltransferase Deficiency
  • alpha-Lecithin:Cholesterol Acyltransferase Deficiency
  • Acyltransferase Deficiency, Lecithin:Cholesterol
  • Deficiency, LCAT
  • Deficiency, alpha-LCAT
  • LCATA Deficiencies
  • alpha LCAT Deficiency
  • Dyslipoproteinemic Corneal Dystrophy
  • Fish-Eye Disease
  • Corneal Dystrophy, Dyslipoproteinemic
  • Fish Eye Disease

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2017(1978); use LECITHIN ACYLTRANSFERASE DEFICIENCY 1991-2016; HYPOLIPOPROTEINEMIA 1980-1990; HYPOLIPOPROTEINEMIAS 1978-1979

MeSH Record

Previous Indexing

  • Acyltransferases (1966-1977)
  • Lecithin Acyltransferase/DF (1975-1977)
  • Lipid Metabolism, Inborn Errors (1966-1977)
  • Lipoproteins (1966-1977)

MeSH Hierarchy

Tree Numbers

  1. C16w.320w.565w.398w.500w.330w.500w
  2. C18.452w.584w.500.875w.330w.500w
  3. C18.452w.584w.563w.500w.330w.500w
  4. C18.452w.648w.398w.500w.330w.500w

AMA Style

References

  1. National Library of Medicine. Lecithin Cholesterol Acyltransferase Deficiency. Medical Subject Headings (MeSH). 2026. Unique ID D007863. http://id.nlm.nih.gov/mesh/2026/D007863
  2. Lecithin Cholesterol Acyltransferase Deficiency. In: Wikipedia. https://en.wikipedia.org/wiki/Lecithin_cholesterol_acyltransferase_deficiency
  3. Lecithin Cholesterol Acyltransferase Deficiency. In: Wikidata. https://www.wikidata.org/wiki/Q3441028