Features include always present findings: Hemosiderin-laden macrophages in bronchoalveolar fluid, Dyspnea, High blood pressure in lung arteries (pulmonary arterial hypertension), and Alveolar septal thickening and others; and common findings: Ground-glass opacification, Difficulty breathing (respiratory insufficiency), Failure to thrive, and Increased circulating NT-proBNP concentration and others. 17 total HPO annotations.

CAPNS1 encodes calpain small subunit 1 (268 aa). Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Highest expression in Esophagus Mucosa (381.9 TPM) and Nerve Tibial (338.5 TPM).

Pulmonary hypertension, primary, 6 is associated with mutations in the CAPNS1 gene on chromosome 19.

CAPNS1 is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for CAPNS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pulmonary hypertension, primary, 6 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 6 common features.

No clinical trials have been registered for pulmonary hypertension, primary, 6.

204 publications have been identified in PubMed for pulmonary hypertension, primary, 6. Research spans Clinical Trial Publication (30%), Epidemiology / Natural History (26%), and Review / Meta-Analysis (22%).