heterozygous familial hypercholesterolemia
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal dominant disease |
| gptkbp:characterizedBy |
xanthomas
premature cardiovascular disease elevated LDL cholesterol |
| gptkbp:diagnosedBy |
genetic testing
lipid profile |
| https://www.w3.org/2000/01/rdf-schema#label |
heterozygous familial hypercholesterolemia
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D006937
|
| gptkbp:mutationAssociatedWith |
gptkb:LDLR_gene
gptkb:APOB_gene gptkb:PCSK9_gene |
| gptkbp:OMIM |
143890
|
| gptkbp:onset |
childhood or early adulthood
|
| gptkbp:prevalence |
1 in 200 to 1 in 250 people
|
| gptkbp:riskFactor |
coronary artery disease
|
| gptkbp:treatment |
gptkb:PCSK9_inhibitors
gptkb:ezetimibe lifestyle modification statins |
| gptkbp:bfsParent |
gptkb:familial_hypercholesterolemia
|
| gptkbp:bfsLayer |
6
|