- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199241)
- Pulmonary capillary hemangiomatosis (HP:0005954). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199241)
- Capillary malformation (HP:0025104): A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199241)
- Ground-glass opacification (HP:0025179): On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199241)
- Interlobular septal thickening (HP:0030879): Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199241)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199241)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199241)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199241)
- 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: Frequent (HP:0040282). (ORPHA:199241)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199241)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199241)
- Elevated pulmonary artery pressure (HP:0004890): An abnormally elevated blood pressure in the circulation of the pulmonary artery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199241)
- 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: Frequent (HP:0040282). (ORPHA:199241)
- Hemothorax (HP:0012151): The presence of blood in the pleural space. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199241)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199241)
- Centrilobular ground-glass opacification on pulmonary HRCT (HP:0025180): A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199241)
- Diffuse alveolar hemorrhage (HP:0025420): A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199241)
- Abnormal pulmonary vein morphology (HP:0030968): An abnormality of the structure of the pulmonary veins. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199241)
- Mediastinal lymphadenopathy (HP:0100721): Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199241)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199241)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199241)
- Pulmonary edema (HP:0100598): Fluid accumulation in the lungs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199241)
- Pericardial effusion (HP:0001698): Accumulation of fluid within the pericardium. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:199241)
These phenotypes are associated with the disease Pulmonary capillary hemangiomatosis (ORPHA:199241).
The following phenotypes are NOT associated with this disease:
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: TAS. (ORPHA:199241)
- Cytoplasmic antineutrophil antibody positivity (HP:0032230): The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. Evidence: TAS. (ORPHA:199241)