familial defective apolipoprotein B-100
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
inherited metabolic disease |
| gptkbp:affects |
lipid metabolism
|
| gptkbp:alsoKnownAs |
FDB
|
| gptkbp:associatedWith |
premature coronary artery disease
|
| gptkbp:characterizedBy |
elevated LDL cholesterol
increased risk of atherosclerosis |
| gptkbp:diagnosedBy |
genetic testing
lipid profile |
| gptkbp:firstDescribed |
1986
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial defective apolipoprotein B-100
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:APOB_gene
|
| gptkbp:OMIM |
144010
|
| gptkbp:prevalence |
rare
|
| gptkbp:treatment |
statins
dietary modification |
| gptkbp:bfsParent |
gptkb:APOB_gene
|
| gptkbp:bfsLayer |
7
|