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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06858 | Lipoprotein lipase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11152 | Lipoprotein lipase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000660 | Lipemia retinalis |
| HP:0012238 | Increased circulating chylomicron concentration |
| HP:0001013 | Eruptive xanthomas |
| HP:0004416 | Precocious atherosclerosis |
| HP:0000952 | Jaundice |
| HP:0011462 | Young adult onset |
| HP:0002013 | Vomiting |
| HP:0002018 | Nausea |
| HP:0001744 | Splenomegaly |
