- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: IEA. (OMIM:144250)
- Hyperlipidemia (HP:0003077): An elevated lipid concentration in the blood. Evidence: IEA. (OMIM:144250)
- Elevated circulating LDL-C concentration (HP:0003141): The concentration of low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. Evidence: PCS. (PMID:4718953)
- 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: PCS. (PMID:4718953)
- Myocardial infarction (HP:0001658): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: PCS. (PMID:4718953)
- Xanthelasma (HP:0001114): The presence of xanthomata in the skin of the eyelid. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:144250)
- Elevated circulating apolipoprotein B concentration (HP:0031798): The concentration of apolipoprotein B in the blood circulation is above the upper limit of normal. Evidence: PCS. (PMID:9373757)
- 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:144250)
- Elevated circulating apolipoprotein A-II concentration (HP:0031800): The concentration of apolipoprotein A-II in the blood circulation is above the upper limit of normal. Evidence: PCS. (PMID:12738753)
These phenotypes are associated with the disease hyperlipidemia, familial combined, LPL related (OMIM:144250).