- 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. Frequency: 1/1. Onset: Adult onset (HP:0003581). (PMID:21075760)
- 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. Frequency: 1/1. Onset: Juvenile onset (HP:0003621). (PMID:21205713)
- 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: 0/1. (PMID:21205713)
- 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: PCS. Frequency: 1/1. Onset: Adult onset (HP:0003581). (PMID:21075760)
- 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: PCS. Frequency: 1/1. Onset: Juvenile onset (HP:0003621). (PMID:21205713)
- 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: 1/1. Onset: Juvenile onset (HP:0003621). (PMID:21205713)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:21075760)
- Respiratory insufficiency (HP:0002093). Evidence: PCS. (PMID:21075760)
- Interlobular septal thickening (HP:0030879): Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. Evidence: PCS. Frequency: 1/1. Onset: Juvenile onset (HP:0003621). (PMID:21205713)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: PCS. Frequency: 1/1. Onset: Adult onset (HP:0003581). (PMID:21075760)
These phenotypes are associated with the disease surfactant metabolism dysfunction, pulmonary, 5 (OMIM:614370).