- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:29072)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:29072)
- Adrenal pheochromocytoma (HP:0006748): Pheochromocytoma originating from the adrenal medulla. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:29072)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Glomerular sclerosis (HP:0000096): Accumulation of scar tissue within the glomerulus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Episodic hyperhidrosis (HP:0001069): Intermittent episodes of abnormally increased perspiration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Dysphonia (HP:0001618): Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Episodic abdominal pain (HP:0002574): An intermittent form of abdominal pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Hypertension associated with pheochromocytoma (HP:0002640): A type of hypertension associated with pheochromocytoma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Paraganglioma of head and neck (HP:0002864). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Elevated urinary epinephrine level (HP:0003639): The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Paroxysmal vertigo (HP:0010532): Paroxysmal episodes of vertigo. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Sinus tachycardia (HP:0011703): Heart rate of greater than 100 beats per minute. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Elevated urinary dopamine level (HP:0011979): The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Flushing (HP:0031284): Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:29072)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:29072)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:29072)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:29072)
- Cranial nerve compression (HP:0001293). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:29072)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:29072)
- Vocal cord paralysis (HP:0001605): A loss of the ability to move the vocal folds. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:29072)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:29072)
- Elevated circulating calcitonin concentration (HP:0003528): Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:29072)
- Renal cell carcinoma (HP:0005584): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:29072)
- Retinal capillary hemangioma (HP:0009711): A benign vascular tumor of the retina without any neoplastic characteristics. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:29072)
- Arachnoid hemangiomatosis (HP:0012222): The presence of multiple hemangiomas in the arachnoid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:29072)
- Panic attack (HP:0025269): A sudden episode of intense fear in a situation where there is no danger or apparent cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:29072)
- Aniridia (HP:0000526): Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:29072)
These phenotypes are associated with the disease Hereditary pheochromocytoma-paraganglioma (ORPHA:29072).