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Article

Type 1 Hyperlipoproteinemia Due to Compound Heterozygous Rare Variants in GCKR.

The Journal of clinical endocrinology and metabolism - 1 Nov 2016

Shetty Shilpa, Xing Chao, Garg Abhimanyu

Abstract excerpt

BACKGROUND: Type 1 hyperlipoproteinemia (T1HLP) is a rare, autosomal recessive disorder characterized by extreme elevations in serum triglyceride (TG) levels. Despite considerable progress in identifying several causal genes for T1HLP, such as LPL, APOC2, APOA5, LMF1, and GPIHBP1, the molecular basis of some extremely rare patients presenting with T1HLP remains obscure. CASE DESCRIPTION: We report a 58-year-old...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27403930
DOI: 10.1210/jc.2016-2179
PMCID: PMC5095252

Genes

GCKR
APOA5
APOC2
GPIHBP1
LMF1
LPL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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