Term ID: | 5416 |
Name: | Hyperlipoproteinemia Type III |
Definition: | An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides. |
Alternative IDs: | |
ParentIDs: | MESH:D006951|MESH:D008052 |
TreeNumbers: | C16.320.565.398.483 |C18.452.584.500.500.644.485 |C18.452.648.398.483 |
Synonyms: | Broad Beta Disease |Broad-beta Hyperlipoproteinemia |Dysbetalipoproteinemia |Dysbetalipoproteinemia, Familial |Familial Dysbetalipoproteinemia |Familial Hypercholesterolemia with Hyperlipemia |Hyperlipoproteinemia, Broad beta |Hyperlipoproteinemia, Broad-beta |H |
Slim Mappings: | Genetic disease (inborn)|Metabolic disease |
Reference: |
MedGen: D006952
MeSH: D006952
OMIM:
Genes: |
Phenotypes | |
Disease Causing ClinVar Variants | |