- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:275766)
- Right ventricular hypertrophy (HP:0001667): In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275766)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275766)
- Elevated pulmonary artery pressure (HP:0004890): An abnormally elevated blood pressure in the circulation of the pulmonary artery. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275766)
- Increased pulmonary vascular resistance (HP:0005317): Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275766)
- Abnormal jugular vein morphology (HP:3000042): Any structural abnormality of a jugular vein. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:275766)
- Syncope (HP:0001279): A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275766)
- 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: Frequent (HP:0040282). (ORPHA:275766)
- Ankle swelling (HP:0001785). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275766)
- Tricuspid regurgitation (HP:0005180): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275766)
- Edema of the dorsum of feet (HP:0012098): An abnormal accumulation of fluid beneath the skin on the back of the feet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275766)
- Heart murmur (HP:0030148): An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:275766)
- 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:275766)
- 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: Occasional (HP:0040283). (ORPHA:275766)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275766)
- Pedal edema (HP:0010741): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:275766)
These phenotypes are associated with the disease Idiopathic pulmonary arterial hypertension (ORPHA:275766).
The following phenotypes are NOT associated with this disease:
- Abnormality of connective tissue (HP:0003549): Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). Evidence: TAS. (ORPHA:275766)
- Chronic hemolytic anemia (HP:0004870): An chronic form of hemolytic anemia. Evidence: TAS. (ORPHA:275766)