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familial lipoprotein lipase deficiency
Summary
- Synonym
-
- Fredrickson type I hyperlipoproteinemia
- Fredrickson type I lipaemia
- familial LPL deficiency
- familial hyperlipoproteinemia type I
- 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.
- Super Class
- autosomal recessive disease familial chylomicronemia syndrome
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001433 | Hepatosplenomegaly |
| HP:0012238 | Increased circulating chylomicron concentration |
| HP:0001744 | Splenomegaly |
| HP:0000952 | Jaundice |
| HP:0003077 | Hyperlipidemia |
