Phenotypes associated with the disease pheochromocytoma/paraganglioma syndrome 7 (OMIM:618475, an entry in Online Mendelian Inheritance in Man):
- Adult onset (HP:0003581, a Human Phenotype Ontology term): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 8/8. (PMID:30929736)
- Typified by incomplete penetrance (HP:0003829, a Human Phenotype Ontology term): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: PCS. (PMID:30929736)
- Paraganglioma (HP:0002668, a Human Phenotype Ontology term): 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: 6/8. (PMID:30929736)
- 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:30929736)
- Pheochromocytoma (HP:0002666, a Human Phenotype Ontology term): Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. Evidence: PCS. Frequency: 3/8. (PMID:30929736)