- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: IEA. (OMIM:144650)
- Decreased circulating HDL-C concentration (HP:0003233): The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: TAS. (OMIM:144650)
- Decreased circulating LDL-C concentration (HP:0003563): The concentration of low-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: TAS. (OMIM:144650)
- Elevated circulating VLDL-C concentration (HP:0003362): The concentration of very-low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:144650)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:144650)
- Increased circulating chylomicron concentration (HP:0012238): Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. Evidence: TAS. (OMIM:144650)
These phenotypes are associated with the disease hyperlipoproteinemia type V (OMIM:144650).