Type IIa hyperlipoproteinemia
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:familial_hypercholesterolemia |
| gptkbp:alsoKnownAs |
gptkb:familial_hypercholesterolemia
|
| gptkbp:causedBy |
mutations in LDLR gene
LDL receptor deficiency |
| gptkbp:characterizedBy |
elevated LDL cholesterol
normal triglycerides |
| gptkbp:class |
Fredrickson type IIa
|
| gptkbp:diagnosedBy |
lipid profile
|
| https://www.w3.org/2000/01/rdf-schema#label |
Type IIa hyperlipoproteinemia
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:prevalence |
1 in 500
|
| gptkbp:riskFactor |
atherosclerosis
coronary artery disease |
| gptkbp:symptom |
xanthomas
corneal arcus |
| gptkbp:treatment |
statins
dietary modification |
| gptkbp:bfsParent |
gptkb:Familial_Hypercholesterolemia
|
| gptkbp:bfsLayer |
7
|