Phenotypes associated with the disease hypertriglyceridemia 1 (OMIM:145750):
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: IEA. (OMIM:145750)
- 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: IEA. (OMIM:145750)
- Hypopituitarism (HP:0040075). Evidence: IEA. (OMIM:145750)
- Precocious atherosclerosis (HP:0004416). Evidence: IEA. (OMIM:145750)
- 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: IEA. (OMIM:145750)
- Atheroeruptive xanthoma (HP:0001039). Evidence: IEA. (OMIM:145750)
- Glucose intolerance (HP:0001952): Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). Evidence: IEA. (OMIM:145750)