Phenotypes associated with the disease Asbestos intoxication (ORPHA:2302):
- Abnormality of the respiratory system (HP:0002086): An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2302)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2302)
- 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:2302)
- Diffuse reticular or finely nodular infiltrations (HP:0002207). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2302)
- Reduced vital capacity (HP:0002792): An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2302)
- 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:2302)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2302)
- Abnormal pulmonary interstitial morphology (HP:0006530): Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2302)
- Oxygen desaturation on exertion (HP:0030874): Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2302)
- Nonproductive cough (HP:0031246): A cough that does not produce phlegm or mucus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2302)
- Subpleural honeycombing (HP:0031631): So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2302)
- Pleural thickening (HP:0031944): An increase in the thickness of the pleura, generally related to scarring of the pleural tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2302)
- Late inspiratory crackles (HP:0031998): Crackles that appear any time after the beginning of inspiration and last till the end of inspiration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2302)
- Reduced forced vital capacity (HP:0032341): An abnormal reduction in the amount of air a person can expel following maximal inspiration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2302)
- 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: Frequent (HP:0040282). (ORPHA:2302)
- 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: Occasional (HP:0040283). (ORPHA:2302)
- Cor pulmonale (HP:0001648): Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2302)
- 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: Occasional (HP:0040283). (ORPHA:2302)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2302)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2302)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2302)
- 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: Occasional (HP:0040283). (ORPHA:2302)
- Wheezing (HP:0030828): A high-pitched whistling sound associated with labored breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2302)
- Hepatojugular reflux (HP:0030849): The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2302)
- Interlobular septal thickening (HP:0030879): Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2302)
- Chest tightness (HP:0031352): An unpleasant sensation of tightness or pressure in the chest. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2302)
- Abnormal sputum (HP:0032016): Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2302)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2302)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2302)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2302)
- Myocardial fibrosis (HP:0001685): Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2302)
- Lung adenocarcinoma (HP:0030078). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2302)
- Malignant mesothelioma (HP:0100001): Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma being the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2302)
- 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: Very rare (HP:0040284). (ORPHA:2302)
- Atelectasis (HP:0100750): Collapse of part of a lung associated with absence of inflation (air) of that part. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2302)