Features include always present findings: Pulmonary arterial hypertension with lack of acute response to NO challenge; and common findings: Elevated pulmonary artery pressure and High blood pressure in lung arteries (pulmonary arterial hypertension). 8 total HPO annotations.

KCNK3 encodes potassium two pore domain channel subfamily K member 3 (394 aa). K(+) channel that conducts voltage-dependent outward rectifying currents upon membrane depolarization. Highest expression in Adrenal Gland (248.3 TPM) and Lung (47.2 TPM).

Pulmonary hypertension, primary, 4 is associated with mutations in the KCNK3 gene on chromosome 2.

KCNK3 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 3.7.

Genetic testing for KCNK3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pulmonary hypertension, primary, 4 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 2 common features.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

271 publications have been identified in PubMed for pulmonary hypertension, primary, 4. Kisho has analyzed 160 by research type. Research spans Epidemiology / Natural History (32%), Clinical Trial Publication (23%), and Review / Meta-Analysis (19%).