Genopathy
Gene-Disorder Association · Article
Gene
LCAT
Lecithin-Cholesterol Acyltransferase
Disorder
Lipid Metabolism Disorder
First reported 2000
Supporting publications 4
Key publication · gene–disorder Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)].The Journal of clinical endocrinology and metabolism · 2000
Key publication · disorder Inborn errors of lipid metabolism; clinical, genetic, and chemical aspects.A.M.A. archives of pathology · 1955
Manually curated
Association Review

In brief

The association between LCAT (Lecithin-Cholesterol Acyltransferase) and Lipid Metabolism Disorder is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 4
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
LCAT

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Lipid Metabolism Disorder

The disorder

10 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Literature

Reading

4 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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06
Provenance

References & sources

6 references

Every source and publication cited across this dossier, as one numbered reference list.

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