familial lipoprotein lipase deficiency

Term ID

DOID:14118

Synonyms

• familial hyperlipoproteinemia type I
• familial LPL deficiency
• Fredrickson type I hyperlipoproteinemia
• Fredrickson type I lipaemia
• hypercholesterinaemic xanthomatosis
• hyperchylomicronemia
• mixed hyperglyceridemia

Definition

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. (2)

References

• GARD:12241
• ICD10CM:E78.3
• ICD9CM:272.3
• MESH:D008072
• NCI:C84771
• OMIM:238600
• ORDO:309015
• SNOMEDCT_US_2023_03_01:34171006
• UMLS_CUI:C0023817

Ontology

Human Disease   ( DOID:14118 )