familial dysbetalipoproteinemia
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
metabolic disorder |
| gptkbp:alsoKnownAs |
gptkb:type_III_hyperlipoproteinemia
|
| gptkbp:associatedWith |
xanthomas
premature atherosclerosis |
| gptkbp:causedBy |
mutations in the APOE gene
|
| gptkbp:characterizedBy |
elevated cholesterol
elevated triglycerides increased beta-VLDL |
| gptkbp:diagnosedBy |
genetic testing
lipid profile |
| gptkbp:firstDescribed |
gptkb:Carl_Müller
1939 |
| https://www.w3.org/2000/01/rdf-schema#label |
familial dysbetalipoproteinemia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:prevalence |
rare
|
| gptkbp:treatment |
gptkb:fibrates
statins diet modification |
| gptkbp:bfsParent |
gptkb:type_III_hyperlipoproteinemia
|
| gptkbp:bfsLayer |
7
|