homozygous familial hypercholesterolemia
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
adults
children |
| gptkbp:causedBy |
mutations in APOB gene
mutations in LDLR gene mutations in PCSK9 gene |
| gptkbp:complication |
coronary artery disease
aortic stenosis |
| gptkbp:diagnosedBy |
genetic testing
lipid profile |
| gptkbp:firstDescribed |
1970s
|
| https://www.w3.org/2000/01/rdf-schema#label |
homozygous familial hypercholesterolemia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D006937
|
| gptkbp:OMIM |
143890
|
| gptkbp:prevalence |
1 in 160,000 to 1,000,000
|
| gptkbp:riskFactor |
myocardial infarction
stroke |
| gptkbp:symptom |
xanthomas
corneal arcus early onset atherosclerosis premature cardiovascular disease very high LDL cholesterol |
| gptkbp:synonym |
gptkb:HoFH
familial hypercholesterolemia homozygous form |
| gptkbp:treatment |
gptkb:PCSK9_inhibitors
gptkb:LDL_apheresis gptkb:ezetimibe liver transplantation statins |
| gptkbp:bfsParent |
gptkb:familial_hypercholesterolemia
|
| gptkbp:bfsLayer |
6
|