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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
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 154 | ADRB2 | adrenoceptor beta 2 | |
| 335 | APOA1 | apolipoprotein A1 | |
| 338 | APOB | apolipoprotein B | |
| 2053 | EPHX2 | epoxide hydrolase 2 | |
| 2690 | GHR | growth hormone receptor | |
| 3949 | LDLR | low density lipoprotein receptor | |
| 5445 | PON2 | paraoxonase 2 | |
| 255738 | PCSK9 | proprotein convertase subtilisin/kexin type 9 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P01130 | Low-density lipoprotein receptor | |
| P02647 | Apolipoprotein A-I | |
| P04114 | Apolipoprotein B-100 | |
| P07550 | Beta-2 adrenergic receptor | |
| P10912 | Growth hormone receptor | |
| Q15165 | Serum paraoxonase/arylesterase 2 | |
| Q8NBP7 | Proprotein convertase subtilisin/kexin type 9 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q91ZJ1 | Low density lipoprotein receptor |
- 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 |
