Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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 |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 124 | ADH1A | alcohol dehydrogenase 1A (class I), alpha polypeptide | |
| 141 | ADPRH | ADP-ribosylarginine hydrolase | |
| 240 | ALOX5 | arachidonate 5-lipoxygenase | |
| 308 | ANXA5 | annexin A5 | |
| 570 | BAAT | bile acid-CoA:amino acid N-acyltransferase | |
| 1298 | COL9A2 | collagen type IX alpha 2 chain | |
| 1581 | CYP7A1 | cytochrome P450 family 7 subfamily A member 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2053 | EPHX2 | epoxide hydrolase 2 |
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 |
