Phenotypes associated with the disease Non-functioning paraganglioma (ORPHA:94080):
- 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:94080)
- Episodic hyperhidrosis (HP:0001069): Intermittent episodes of abnormally increased perspiration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94080)
- 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:94080)
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94080)
- 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:94080)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94080)
- 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:94080)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94080)
- 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:94080)
- Episodic abdominal pain (HP:0002574): An intermittent form of abdominal pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94080)
- Hypertension associated with pheochromocytoma (HP:0002640): A type of hypertension associated with pheochromocytoma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94080)
- Paraganglioma of head and neck (HP:0002864). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94080)
- 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:94080)
- 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:94080)
- 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:94080)
- 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:94080)
- 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:94080)
- Paroxysmal vertigo (HP:0010532): Paroxysmal episodes of vertigo. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94080)
- Sinus tachycardia (HP:0011703): Heart rate of greater than 100 beats per minute. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94080)
- 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:94080)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:94080)
- 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:94080)
- 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:94080)
- 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:94080)
- 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:94080)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:94080)
- Cranial nerve compression (HP:0001293). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:94080)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:94080)
- Vocal cord paralysis (HP:0001605): A loss of the ability to move the vocal folds. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:94080)
- 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:94080)
- 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:94080)