Term ID: | 5417 |
Name: | Hyperlipoproteinemia Type IV |
Definition: | A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits. |
Alternative IDs: | OMIM:145750 |
ParentIDs: | MESH:D006951|MESH:D008052|MESH:D015228 |
TreeNumbers: | C16.320.565.398.487 |C18.452.584.500.500.644.490 |C18.452.584.500.500.851.500 |C18.452.648.398.487 |
Synonyms: | Carbohydrate Inducible Hyperlipemia |Carbohydrate-Inducible Hyperlipemia |Carbohydrate Inducible Hyperlipemias |Carbohydrate-Inducible Hyperlipemias |Familial Hyperlipoproteinemia Type 4 |Familial Hypertriglyceridemia |Familial Type IV Hyperlipoproteinemia |Hyp |
Slim Mappings: | Genetic disease (inborn)|Metabolic disease |
Reference: |
MedGen: D006953
MeSH: D006953
OMIM: 145750;
Genes: AF8T; APOA5; LIPI; |
Phenotypes | |
Disease Causing ClinVar Variants | |