Phenotypes associated with the disease hypoalphalipoproteinemia, primary, 2, intermediate (OMIM:619836):
- 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: PCS. (PMID:2512329)
- Decreased circulating apolipoprotein A-I concentration (HP:0031799): The concentration of apolipoprotein A-I in the blood circulation is below the lower limit of normal. Evidence: PCS. (PMID:2512329)
- 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: PCS. (PMID:2512329)