Genopathy
Gene-Disorder Association · Article
Gene
LIPC
Lipase C, Hepatic Type
Disorder
Hyperlipidemia Due To Hepatic Triglyceride Lipase Deficiency
First reported 1991
Supporting publications 4
Key publication · disorder A hepatic lipase gene mutation associated with heritable lipolytic deficiency.The Journal of clinical endocrinology and metabolism · 1991
Manually curated
Association Review

In brief

The association between LIPC (Lipase C, Hepatic Type) and Hyperlipidemia Due To Hepatic Triglyceride Lipase Deficiency is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 68
Symptoms 1
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

2 sources

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

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03
LIPC

The gene

1 source summary

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

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04
Hyperlipidemia Due To Hepatic Triglyceride Lipase Deficiency

The disorder

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

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05
ClinVar and variant evidence

Genetic basis

68 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

4 publications

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

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07
Provenance

References & sources

8 references

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

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