Phenotypes associated with the disease cholesterol-ester transfer protein deficiency (OMIM:143470, an entry in Online Mendelian Inheritance in Man):
- Elevated circulating HDL-C concentration (HP:0012184, a Human Phenotype Ontology term): The concentration of high-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. Evidence: PCS. (PMID:2215607)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:2215607)