- Bronchial wall thickening (HP:0033542, a Human Phenotype Ontology term): Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density. Evidence: PCS. (PMID:25657025)
- Decreased DLCO (HP:0045051, a Human Phenotype Ontology term): 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:11991887)
- Type II pneumocyte hyperplasia (HP:0033328, a Human Phenotype Ontology term): Increase in the number of type II pneumocytes. Evidence: PCS. Frequency: 1/1. (PMID:11207353)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/14. (PMID:11991887)
- Reduced forced vital capacity (HP:0032341, a Human Phenotype Ontology term): An abnormal reduction in the amount of air a person can expel following maximal inspiration. Evidence: PCS. (PMID:11991887)
- Absent bronchoalveolar surfactant-protein C (HP:0032980, a Human Phenotype Ontology term): Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseases, pathogenetically related to the alveolar surfactant region. Evidence: PCS. Frequency: 2/2. (PMID:11207353)
- Respiratory failure (HP:0002878, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/1. (PMID:11207353)
- Recurrent pneumonia (HP:0006532, a Human Phenotype Ontology term): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 17/17. (PMID:25657025)
- Desquamative interstitial pneumonitis (HP:0005942, a Human Phenotype Ontology term): Diffuse filling of the distal airspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickened alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present. Evidence: PCS. Frequency: 3/11. (PMID:25657025;PMID:11207353)
- Interstitial pneumonitis (HP:0006515, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:610913)
- Intralobular septal thickening (HP:0033638, a Human Phenotype Ontology term): Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern. Evidence: PCS. Frequency: 2/6. (PMID:25657025)
- Intraalveolar phospholipid accumulation (HP:0006517, a Human Phenotype Ontology term): 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: TAS. (OMIM:610913)
- Cystic pattern on pulmonary HRCT (HP:0025394, a Human Phenotype Ontology term): On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. Evidence: PCS. Frequency: 6/6. (PMID:25657025)
- Respiratory distress (HP:0002098, a Human Phenotype Ontology term): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: PCS. Onset: Neonatal onset (HP:0003623, a Human Phenotype Ontology term). (PMID:11207353)
- Bronchiectasis (HP:0002110, a Human Phenotype Ontology term): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. (PMID:25657025)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 2/17. (PMID:25657025)
- Ground-glass opacification (HP:0025179, a Human Phenotype Ontology term): 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: 6/6. (PMID:25657025)
- Dyspnea (HP:0002094, a Human Phenotype Ontology term): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: PCS. Frequency: 9/14. (PMID:11991887)
- Cough (HP:0012735, a Human Phenotype Ontology term): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: PCS. Frequency: 8/14. (PMID:11991887)
- Pulmonary arterial hypertension (HP:0002092, a Human Phenotype Ontology term): 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: 2/17. (PMID:25657025)
- Hypoxemia (HP:0012418, a Human Phenotype Ontology term): An abnormally low level of blood oxygen. Evidence: PCS. Frequency: 17/17. (PMID:25657025)
- Respiratory insufficiency (HP:0002093, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:11207353)
- Nonspecific interstitial pneumonia (HP:0033584, a Human Phenotype Ontology term): Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa. Evidence: PCS. Frequency: 8/11. (PMID:25657025;PMID:11207353)
- Clubbing (HP:0001217, a Human Phenotype Ontology term): 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: 5/14. (PMID:11991887)
- Spontaneous pneumothorax (HP:0002108, a Human Phenotype Ontology term): Pneumothorax occurring without traumatic injury to the chest or lung. Evidence: PCS. Frequency: 3/17. (PMID:25657025)
- Cyanosis (HP:0000961, a Human Phenotype Ontology term): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: PCS. Frequency: 1/1. (PMID:11991887)
- Pulmonary fibrosis (HP:0002206, a Human Phenotype Ontology term): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: PCS. Frequency: 1/17. (PMID:25657025)
- Tachypnea (HP:0002789, a Human Phenotype Ontology term): Very rapid breathing. Evidence: PCS. Frequency: 1/1. (PMID:11991887)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:11207353)
These phenotypes are associated with the disease surfactant metabolism dysfunction, pulmonary, 2 (OMIM:610913, an entry in Online Mendelian Inheritance in Man).