Phenotypes associated with the disease pulmonary hypertension, primary, 1 (OMIM:178600):
- 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: 1/1. (PMID:34953004)
- Pulmonary aterial intimal fibrosis (HP:0005312): Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation. Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:178600)
- Elevated right atrial pressure (HP:0005168): An abnormal increase in magnitude of the pressure in the right atrium. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:178600)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: PCS. Frequency: Frequent (HP:0040282). (OMIM:178600)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: PCS. Frequency: 1/1. (PMID:34953004)
- 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: PCS. Frequency: 14/14. (PMID:34953004;PMID:11015450)
- Arterial intimal fibrosis (HP:0011353): Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries. Evidence: TAS. (OMIM:178600)
- Right ventricular failure (HP:0001708): Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:9729004)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 9/9. (PMID:11015450)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: PCS. (PMID:8988890)
- Abnormal thrombosis (HP:0001977): Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:178600)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. (OMIM:178600)
- Telangiectasia (HP:0001009): Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. Evidence: TAS. (OMIM:178600)
- Pulmonary artery vasoconstriction (HP:0005308). Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:178600)
- 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:10973254)
- 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: PCS. Frequency: Very frequent (HP:0040281). (PMID:9729004)
- 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: PCS. Frequency: Very frequent (HP:0040281). (PMID:9729004)
- Pulmonary arterial medial hypertrophy (HP:0004964): Increase in mass of the tunica media of the arteries in the pulmonary circulation. Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:178600)