Phenotypes associated with the disease autoimmune pulmonary alveolar proteinosis (OMIM:610910):
- Insidious onset (HP:0003587): Gradual, very slow onset of disease manifestations. Evidence: IEA. (OMIM:610910)
- Lung abscess (HP:0025044): A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity. Evidence: PCS. Frequency: 1/12. (PMID:17287477)
- Intraalveolar phospholipid accumulation (HP:0006517): Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. Evidence: PCS. (PMID:17287477)
- Brain abscess (HP:0030049): A collection of pus, immune cells, and other material in the brain. Evidence: PCS. Frequency: 1/12. (PMID:17287477)
- Anti-granulocyte-macrophage colony stimulating factor antibody positivity (HP:0020050): The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor. Evidence: PCS. Frequency: 12/12. (PMID:17287477)
- 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. (PMID:17287477)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: PCS. (PMID:14695413)
- Hypoxemia (HP:0012418): An abnormally low level of blood oxygen. Evidence: PCS. Frequency: 1/1. (PMID:12501225)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: PCS. (PMID:17287477)
- Inspiratory crackles (HP:0031996): Crackles that are heard during the inspiratory phase. Evidence: PCS. (PMID:14695413)
- 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: PCS. Frequency: 1/1. (PMID:12501225)
- 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. (PMID:14695413)
- Clubbing (HP:0001217): Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:14695413)
- Chest pain (HP:0100749): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Evidence: PCS. Frequency: Very rare (HP:0040284). (PMID:14695413)
- Cyanosis (HP:0000961): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: PCS. (PMID:14695413)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: IEA. (OMIM:610910)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. (PMID:17287477)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: IEA. (OMIM:610910)