- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: PCS. Frequency: 17/17. (PMID:34655521)
- Macronodular adrenal hyperplasia (HP:0008231). Evidence: PCS. Frequency: 16/16. (PMID:34655521)
- Decreased circulating ACTH concentration (HP:0002920): The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation. Evidence: PCS. Frequency: 17/17. (PMID:34655521)
- 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:34655521)
These phenotypes are associated with the disease ACTH-independent macronodular adrenal hyperplasia 3 (OMIM:620990).