Phenotypes associated with the disease pheochromocytoma/paraganglioma syndrome 6 (OMIM:618464):
- Elevated circulating catecholamine level (HP:0003334): An abnormal increase in catecholamine concentration in the blood. Evidence: IEA. (PMID:29431636)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. (PMID:29431636)
- Paraganglioma (HP:0002668): A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. Evidence: PCS. Frequency: 7/7. Onset: Adult onset (HP:0003581). (PMID:29431636)
- 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:29431636)