- Pulmonary venous occlusion (HP:0006518): Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition. Evidence: PCS. (PMID:12446270)
- Centrilobular ground-glass opacification on pulmonary HRCT (HP:0025180): A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules. Evidence: PCS. Frequency: 1/1. (PMID:12446270)
- Pulmonary arterial hypertension (HP:0002092): 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. (PMID:16429395)
- Elevated jugular venous pressure (HP:0030848): Increased jugular venous pressure. Evidence: PCS. (PMID:12446270)
- Abnormally loud pulmonic component of the second heart sound (HP:0031687). Evidence: PCS. Frequency: 1/1. (PMID:12446270)
- 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. (PMID:12446270)
- Autosomal dominant inheritance (HP:0000006): 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:16429403)
These phenotypes are associated with the disease pulmonary venoocclusive disease 1 (OMIM:265450).