DISEASES

Disease-gene associations mined from literature

Human genes for familial lipoprotein lipase deficiency

Familial lipoprotein lipase deficiency [DOID:14118]

A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.

Synonyms:  familial lipoprotein lipase deficiency,  DOID:14118,  hereditary lipoprotein lipase deficiency,  familial lipoprotein lipase deficiencies,  familial hyperlipoproteinemia type I ...

Linkouts:  OMIM