- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: IEA. (OMIM:171420)
- Elevated urinary norepinephrine level (HP:0003345): The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: IEA. (OMIM:171420)
- Positive regitine blocking test (HP:0003574): A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension. Evidence: IEA. (OMIM:171420)
- Hypertensive retinopathy (HP:0001095): Condition of the retina, secondary to severe systemic arterial hypertension which can be acute or longstanding. Features include one or several of the following: retinal vascular tortuosity, arteriovenous crossing signs, retinal cotton wool spot and intraretinal hemorrhages. It can be associated with optic disc swelling. Evidence: IEA. (OMIM:171420)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: IEA. (OMIM:171420)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:171420)
- Cafe-au-lait spot (HP:0000957): Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. Evidence: IEA. (OMIM:171420)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: IEA. (OMIM:171420)
- Axillary freckling (HP:0000997): The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. Evidence: IEA. (OMIM:171420)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: IEA. (OMIM:171420)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: IEA. (OMIM:171420)
- 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: IEA. (OMIM:171420)
- Episodic hypertension (HP:0000875). Evidence: IEA. (OMIM:171420)
- Pheochromocytoma (HP:0002666): 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: IEA. (OMIM:171420)
These phenotypes are associated with the disease pheochromocytoma-islet cell tumor syndrome (OMIM:171420).