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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
familial hypercholesterolemia
Summary
- Synonym
-
- Fredrickson type IIa hyperlipoproteinemia
- Fredrickson type IIa lipidaemia
- familial hyperbetalipoproteinaemia
- familial hypercholesteremia
- hyperbetalipoproteinemia
- type II hyperlipidemia
- Definition
- A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
- Super Class
- familial hyperlipidemia
External Links
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2131 | EXT1 | exostosin glycosyltransferase 1 | |
| 2132 | EXT2 | exostosin glycosyltransferase 2 | |
| 2710 | GK | glycerol kinase | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3931 | LCAT | lecithin-cholesterol acyltransferase | |
| 3988 | LIPA | lipase A, lysosomal acid type | |
| 3990 | LIPC | lipase C, hepatic type | |
| 4023 | LPL | lipoprotein lipase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16394 | Exostosin-1 | |
| Q8NCC3 | Lysosomal phospholipase A and acyltransferase | |
| Q93063 | Exostosin-2 | |
| Q9NR19 | Acetyl-coenzyme A synthetase, cytoplasmic | |
| Q9Y286 | Sialic acid-binding Ig-like lectin 7 | |
| Q9Y5X9 | Endothelial lipase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001114 | Xanthelasma |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003141 | Increased LDL cholesterol concentration |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001677 | Coronary artery atherosclerosis |
| HP:0010874 | Tendon xanthomatosis |
| HP:0001084 | Corneal arcus |
