Phenotypes associated with the disease pulmonary hypertension, primary, 7 (OMIM:621248):
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: PCS. Frequency: 1/3. (PMID:35618278)
- 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: 4/31. (PMID:37895315;PMID:35618278;PMID:30044643)
- Cardiac arrest (HP:0001695): An abrupt loss of heart function. Evidence: PCS. Frequency: 1/1. (PMID:37895315)
- Right ventricular dilatation (HP:0005133): Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1. Evidence: PCS. Frequency: 1/1. (PMID:37895315)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/7. (PMID:37895315)
- Right axis deviation (HP:0033567): A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used. Evidence: PCS. Frequency: 4/5. (PMID:33952808)
- Incomplete right bundle branch block (HP:6000313): Right bundle branch block (RBBB) represents an abnormality in the intraventricular electrical conduction system of the human heart, generating enlarged QRS and modified vectors on the electrocardiogram (ECG). Incomplete RBBB (IRBBB) is defined by (i) QRS duration between 110 and 120 ms in adults; (ii) rsr, rsR, or rSR in leads V1 or V2. The R or r deflection is usually wider than the initial R wave. In a minority of patients, a wide and often notched R wave pattern may be seen in leads V1 and/or V2; (iii) S wave of greater duration than R wave or greater than 40 ms in leads I and V6 in adults; and (iv) Normal R peak time in leads V5 and V6 but greater than 50 ms in lead V1. The first 3 criteria should be present to make the diagnosis. When a pure dominant R wave with or without a notch is present in V1, criterion 4 should be satisfied. Evidence: PCS. Frequency: 1/4. (PMID:33952808)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 5/31. (PMID:37895315;PMID:35618278;PMID:30044643)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 11/24. (PMID:35618278;PMID:30044643)
- Autism (HP:0000717): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: PCS. Frequency: 2/2. (PMID:37895315)
- Hypercoagulability (HP:0100724): An abnormality of coagulation associated with an increased risk of thrombosis. Evidence: PCS. Frequency: 1/1. (PMID:37895315)
- Chest tightness (HP:0031352): An unpleasant sensation of tightness or pressure in the chest. Evidence: PCS. Frequency: 1/5. (PMID:33952808)
- Reduced systolic function (HP:0006673). Evidence: PCS. Frequency: 1/7. (PMID:37895315)
- Chronic pulmonary obstruction (HP:0006510): An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. Evidence: PCS. Frequency: 1/1. (PMID:37895315)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 10/10. (PMID:37895315;PMID:33794346)
- Pulmonic stenosis (HP:0001642): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: PCS. Frequency: 3/8. (PMID:33794346)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:38655005)
- Obstructive sleep apnea (HP:0002870): Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. Evidence: PCS. Frequency: 2/2. (PMID:37895315)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: PCS. Frequency: 1/1. (PMID:38655005)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. Frequency: 3/5. (PMID:33952808)
- Persistent patent ductus venosus (HP:0012021): Persistence of blood flow through the ductus venosus for longer than the normal time after birth. Evidence: PCS. Frequency: 1/7. (PMID:37895315)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: PCS. Frequency: 2/2. (PMID:37895315;PMID:38655005)
- 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:30044643)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 8/27. (PMID:37895315;PMID:35618278;PMID:30044643)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: PCS. Frequency: 6/21. (PMID:37895315;PMID:35618278)
- Increased pulmonary capillary wedge pressure (HP:0030876): Pulmonary capillary wedge pressure (PCWP) above 15mmHg. Evidence: PCS. Frequency: 0/1. (PMID:33952808)
- Left ventricular systolic dysfunction (HP:0025169): Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. Evidence: PCS. Frequency: 1/1. (PMID:37895315)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 1/1. (PMID:37895315)
- Atrial fibrillation (HP:0005110): An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. Evidence: PCS. Frequency: 1/1. (PMID:37895315)
- Complete right bundle branch block (HP:0011712): A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. Evidence: PCS. Frequency: 1/4. (PMID:33952808)
- Right atrial enlargement (HP:0030718): Increase in size of the right atrium. Evidence: PCS. Frequency: 3/5. (PMID:33952808)
- Pulmonary arterial hypertension with lack of acute response to NO challenge (HP:0033424): A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm). Evidence: PCS. Frequency: 13/15. (PMID:35618278)
- Pulmonary arterial hypertension with positive acute response to NO challenge (HP:0033423): A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at least 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm. Evidence: PCS. Frequency: 2/14. (PMID:35618278)
- Unusual bronchiolitis (HP:0011950): Increased susceptibility to bronchiolitis (inflammation of the bronchioles) as manifested by recurrent or severe epsiodes of bronchiolitis. Evidence: PCS. Frequency: 1/1. (PMID:37895315)
- Decreased DLCO (HP:0045051): Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. Evidence: PCS. Frequency: 11/14. (PMID:37895315;PMID:35618278)
- Leukemia (HP:0001909): A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. Evidence: PCS. Frequency: 1/1. (PMID:37895315)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:37895315)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 3/20. (PMID:35618278)
- Abnormal pulmonary interstitial morphology (HP:0006530): Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. Evidence: PCS. Frequency: 0/4. (PMID:30044643)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: PCS. Frequency: 1/1. (PMID:37895315)
- Bronchial artery dilatation (HP:0033390): Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm. Evidence: PCS. Frequency: 5/8. (PMID:35618278)
- 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: 5/5. (PMID:33952808)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: PCS. Frequency: 3/5. (PMID:33952808)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 8/27. (PMID:37895315;PMID:35618278)
- Juvenile rheumatoid arthritis (HP:0005681). Evidence: PCS. Frequency: 1/1. (PMID:37895315)
- 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: 22/22. (PMID:37895315;PMID:33952808;PMID:35618278;PMID:30044643;PMID:38655005)
- Left Isomerism (HP:0031854): A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures. Evidence: PCS. Frequency: 2/7. (PMID:37895315)
- Interrupted inferior vena cava with azygous continuation (HP:0011671): Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava. Evidence: PCS. Frequency: 1/7. (PMID:37895315)
- 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: PCS. Frequency: 21/21. (PMID:37895315;PMID:35618278;PMID:38655005)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 1/1. (PMID:37895315)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: PCS. Frequency: 10/39. (PMID:37895315;PMID:33952808;PMID:35618278;PMID:30044643;PMID:33794346)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 1/3. (PMID:35618278)
- 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: 30/30. (PMID:37895315;PMID:35618278;PMID:30044643;PMID:38655005)