- Elevated circulating catecholamine level (HP:0003334): An abnormal increase in catecholamine concentration in the blood. Evidence: IEA. (OMIM:605373)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. (OMIM:605373)
- Adrenal pheochromocytoma (HP:0006748): Pheochromocytoma originating from the adrenal medulla. Evidence: IEA. (OMIM:605373)
- Extraadrenal pheochromocytoma (HP:0006737): Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia. Evidence: IEA. (OMIM:605373)
- Recurrent paroxysmal headache (HP:0002331): Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. Evidence: IEA. (OMIM:605373)
- Hypertension associated with pheochromocytoma (HP:0002640): A type of hypertension associated with pheochromocytoma. Evidence: IEA. (OMIM:605373)
- Pulsatile tinnitus (HP:0008629): Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Evidence: TAS. (OMIM:605373)
- Glomus jugular tumor (HP:0003001). Evidence: IEA. (OMIM:605373)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 5/5. (PMID:11062460)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. (OMIM:605373)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. (OMIM:605373)
- Chemodectoma (HP:0030074): A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract. Evidence: TAS. (OMIM:605373)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. (OMIM:605373)
- Vocal cord paralysis (HP:0001605): A loss of the ability to move the vocal folds. Evidence: TAS. (OMIM:605373)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: TAS. (OMIM:605373)
- Episodic paroxysmal anxiety (HP:0000740): Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable. Evidence: IEA. (OMIM:605373)
- Loss of voice (HP:0001686). Evidence: IEA. (OMIM:605373)
- 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: 5/5. (PMID:11062460)
- 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:11062460)
These phenotypes are associated with the disease pheochromocytoma/paraganglioma syndrome 3 (OMIM:605373).