Details of Disease

General Information of Disease (ID: DISA68R2)

Disease Name Hyperlipidemia due to hepatic triglyceride lipase deficiency
Synonyms
hepatic lipase deficiency; lipc deficiency; hyperlipidemia due to hepatic triacylglycerol lipase deficiency; HL deficiency; hyperlipidemia due to hepatic lipase deficiency; hyperlipidemia due to HTGL deficiency; hyperlipidemia due to HL deficiency
Definition
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.
Disease Hierarchy
DISPUX00: Hyperalphalipoproteinemia
DIS4R2OG: Hyperlipidaemia
DISA68R2: Hyperlipidemia due to hepatic triglyceride lipase deficiency
Disease Identifiers
MONDO ID
MONDO_0013533
UMLS CUI
C3151466
OMIM ID
614025
MedGen ID
462816
Orphanet ID
140905
SNOMED CT ID
720940008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HMGCL OTRO9RII Strong Biomarker [1]
LIPC OTZY5SC9 Strong Autosomal recessive [2]
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References

1 3-Hydroxy-3-Methylglutaric Acid Impairs Redox and Energy Homeostasis, Mitochondrial Dynamics, and Endoplasmic Reticulum-Mitochondria Crosstalk in Rat Brain.Neurotox Res. 2020 Feb;37(2):314-325. doi: 10.1007/s12640-019-00122-x. Epub 2019 Nov 13.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.