Features include always present findings: High blood pressure in lung arteries (pulmonary arterial hypertension); and common findings: Right ventricular failure. 9 total HPO annotations.

ATP13A3 encodes ATPase 13A3 (1,226 aa). ATP-driven pump involved in endocytosis-dependent polyamine transport. Uses ATP as an energy source to transfer polyamine precursor putrescine from the endosomal compartment to the cytosol Highest expression in Cells Cultured fibroblasts (75.4 TPM) and Thyroid (53.8 TPM).

Pulmonary hypertension, primary, 5 is associated with mutations in the ATP13A3 gene on chromosome 3.

ATP13A3 is classified as a druggable target (Druggable Genome and Transporter categories) with score 0.0.

Genetic testing for ATP13A3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pulmonary hypertension, primary, 5 has been reported in the published literature.

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

No clinical trials have been registered for pulmonary hypertension, primary, 5.

200 publications have been identified in PubMed for pulmonary hypertension, primary, 5. Kisho has analyzed 97 by research type. Research spans Epidemiology / Natural History (34%), Clinical Trial Publication (26%), and Review / Meta-Analysis (15%).