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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 |
|---|---|---|---|
| 4973 | OLR1 | oxidized low density lipoprotein receptor 1 | |
| 5589 | PRKCSH | PRKCSH beta subunit of glucosidase II | |
| 5950 | RBP4 | retinol binding protein 4 | |
| 6383 | SDC2 | syndecan 2 | |
| 6401 | SELE | selectin E | |
| 7941 | PLA2G7 | phospholipase A2 group VII | |
| 8794 | TNFRSF10C | TNF receptor superfamily member 10c | |
| 9023 | CH25H | cholesterol 25-hydroxylase | |
| 9388 | LIPG | lipase G, endothelial type | |
| 22796 | COG2 | component of oligomeric golgi complex 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14798 | Tumor necrosis factor receptor superfamily member 10C | |
| O95992 | Cholesterol 25-hydroxylase | |
| P04180 | Phosphatidylcholine-sterol acyltransferase | |
| P05362 | Intercellular adhesion molecule 1 | |
| P06858 | Lipoprotein lipase | |
| P08758 | Annexin A5 | |
| P11150 | Hepatic triacylglycerol lipase | |
| P12821 | Angiotensin-converting enzyme | |
| P14314 | Glucosidase 2 subunit beta | |
| P16278 | Beta-galactosidase |
- 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 |
