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hyperlipidemia due to hepatic triglyceride lipase deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description A disorder characterized by elevated levels of beta-migrating very low density lipoproteins, and abnormally triglyceride-rich low and high density lipoproteins.
Mondo Term and Equivalent IDs
MONDO:0013533:  hyperlipidemia due to hepatic triglyceride lipase deficiency
GARD:0012864: 
Orphanet:140905: 
SCTID:720940008: 
UMLS:C3151466: