- 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: 1/4. (PMID:30854216)
- Crackles (HP:0030830, a Human Phenotype Ontology term): Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position. Evidence: PCS. Frequency: 3/4. (PMID:30854216)
- Middle age onset (HP:0003596, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/4. (PMID:30854216)
- Late onset (HP:0003584, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/4. (PMID:30854216)
- 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: 3/4. (PMID:30854216)
- 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: 4/4. (PMID:30854216)
- 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: 2/4. (PMID:30854216)
- Usual interstitial pneumonia (HP:0031950, a Human Phenotype Ontology term): Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing. Evidence: PCS. Frequency: 1/2. (PMID:30854216)
- Restrictive ventilatory defect (HP:0002091, a Human Phenotype Ontology term): 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: 2/4. (PMID:30854216)
- Interlobular septal thickening (HP:0030879, a Human Phenotype Ontology term): Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. Evidence: PCS. Frequency: 3/4. (PMID:30854216)
- Elevated bronchoalveolar lavage fluid eosinophil proportion (HP:0032987, a Human Phenotype Ontology term): Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced. Evidence: PCS. Frequency: 1/2. (PMID:30854216)
- Elevated bronchoalveolar lavage fluid neutrophil proportion (HP:0032977, a Human Phenotype Ontology term): Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases. Evidence: PCS. Frequency: 1/2. (PMID:30854216)
- 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. Frequency: 2/4. (PMID:30854216)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/4. (PMID:30854216)
- 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: 1/2. (PMID:30854216)
- 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: 2/4. (PMID:30854216)
- 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:26792177)
These phenotypes are associated with the disease interstitial lung disease 1 (OMIM:619611, an entry in Online Mendelian Inheritance in Man).