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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 275 | AMT | aminomethyltransferase | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 3931 | LCAT | lecithin-cholesterol acyltransferase | |
| 4023 | LPL | lipoprotein lipase | |
| 8694 | DGAT1 | diacylglycerol O-acyltransferase 1 | |
| 57104 | PNPLA2 | patatin like phospholipase domain containing 2 | |
| 338328 | GPIHBP1 | glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04180 | Phosphatidylcholine-sterol acyltransferase | |
| P06858 | Lipoprotein lipase | |
| Q04446 | 1,4-alpha-glucan-branching enzyme | |
| Q8IV16 | Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 | |
| Q96AD5 | Patatin-like phospholipase domain-containing protein 2 |
- 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 |
