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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 |
|---|---|---|---|
| 154 | ADRB2 | adrenoceptor beta 2 | |
| 335 | APOA1 | apolipoprotein A1 | |
| 338 | APOB | apolipoprotein B | |
| 348 | APOE | apolipoprotein E | |
| 2053 | EPHX2 | epoxide hydrolase 2 | |
| 2690 | GHR | growth hormone receptor | |
| 2710 | GK | glycerol kinase | |
| 3949 | LDLR | low density lipoprotein receptor | |
| 4318 | MMP9 | matrix metallopeptidase 9 | |
| 5054 | SERPINE1 | serpin family E member 1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11555 | Adrb2 | adrenergic receptor, beta 2 | |
| 13850 | Ephx2 | epoxide hydrolase 2, cytoplasmic | |
| 14600 | Ghr | growth hormone receptor | |
| 14933 | Gk | glycerol kinase | |
| 16835 | Ldlr | low density lipoprotein receptor | |
| 17395 | Mmp9 | matrix metallopeptidase 9 | |
| 19662 | Rbp4 | retinol binding protein 4, plasma | |
| 100102 | Pcsk9 | proprotein convertase subtilisin/kexin type 9 | |
| 238055 | Apob | apolipoprotein B | |
| 330260 | Pon2 | paraoxonase 2 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24617 | Serpine1 | serpin family E member 1 | |
| 25235 | Ghr | growth hormone receptor | |
| 25703 | Rbp4 | retinol binding protein 4 | |
| 54225 | Apob | apolipoprotein B | |
| 79223 | Gk | glycerol kinase | |
| 81687 | Mmp9 | matrix metallopeptidase 9 | |
| 296851 | Pon2 | paraoxonase 2 | |
| 298296 | Pcsk9 | proprotein convertase subtilisin/kexin type 9 | |
| 300438 | Ldlr | low density lipoprotein receptor |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 373644 | ldlr.S | low density lipoprotein receptor S homeolog | Xenopus laevis (African clawed frog) | |
| 380341 | pon2.L | paraoxonase 2 L homeolog | Xenopus laevis (African clawed frog) | |
| 397757 | ldlr.L | low density lipoprotein receptor L homeolog | Xenopus laevis (African clawed frog) | |
| 432039 | pon2.S | paraoxonase 2 S homeolog | Xenopus laevis (African clawed frog) | |
| 448598 | pon2 | paraoxonase 2 | Xenopus tropicalis (tropical clawed frog) |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 173747 | R11F4.1 | putative glycerol kinase | |
| 174116 | gldi-2 | EGF-like domain-containing protein | |
| 176852 | dsc-4 | Microsomal triglyceride transfer protein homolog | |
| 178672 | srp-3 | Serpin domain-containing protein | |
| 179991 | zmp-4 | Hemopexin;Peptidase metallopeptidase domain-containing protein | |
| 180351 | W01F3.2 | Uncharacterized protein | |
| 187297 | poml-1 | PON (paraoxonase) and MEC-6 Like |
- 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 |
