Phenotypes associated with the disease pheochromocytoma/paraganglioma syndrome 1 (OMIM:168000):
- Elevated circulating catecholamine level (HP:0003334): An abnormal increase in catecholamine concentration in the blood. Evidence: IEA. (OMIM:168000)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. (OMIM:168000)
- Adrenal pheochromocytoma (HP:0006748): Pheochromocytoma originating from the adrenal medulla. Evidence: PCS. Frequency: 27/49. (PMID:15328326;PMID:12111639)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 14/49. (PMID:15328326;PMID:12111639)
- Hypertension associated with pheochromocytoma (HP:0002640): A type of hypertension associated with pheochromocytoma. Evidence: IEA. (OMIM:168000)
- 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:168000)
- 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:168000)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 22/49. (PMID:15328326;PMID:12111639)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. (OMIM:168000)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. (OMIM:168000)
- Vocal cord paralysis (HP:0001605): A loss of the ability to move the vocal folds. Evidence: TAS. (OMIM:168000)
- 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:168000)
- Loss of voice (HP:0001686). Evidence: IEA. (OMIM:168000)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 9/49. (PMID:15328326;PMID:12111639)
- 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: PCS. Frequency: 12/24. (PMID:15328326)
- Glomus tympanicum paraganglioma (HP:0006715). Evidence: IEA. (OMIM:168000)
- 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:168000)
- Glomus jugular tumor (HP:0003001). Evidence: TAS. (OMIM:168000)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 4/49. (PMID:15328326;PMID:12111639)
- Carotid paraganglioma (HP:0100635): A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery. Evidence: PCS. Frequency: 2/25. (PMID:12111639)
- 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:168000)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: IEA. (OMIM:168000)
- 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:168000)
- 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:12111639)
- Vagal paraganglioma (HP:0002886): A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve. Evidence: IEA. (OMIM:168000)
- Paraganglioma of head and neck (HP:0002864). Evidence: PCS. Frequency: 6/49. (PMID:15328326;PMID:12111639)