Features include very common findings: Decreased DLCO, Pulmonary capillary hemangiomatosis, Lymphadenopathy, and Capillary malformation and others; and common findings: Dyspnea, Centrilobular ground-glass opacification on pulmonary HRCT, Mediastinal lymphadenopathy, and Chronic fatigue and others. 27 total HPO annotations.

EIF2AK4 encodes eukaryotic translation initiation factor 2 alpha kinase 4 (1,649 aa). Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to low amino acid availability. Highest expression in Cells Cultured fibroblasts (48.7 TPM) and Cells EBV-transformed lymphocytes (23.7 TPM).

Pulmonary venoocclusive disease 2 is associated with mutations in the EIF2AK4 gene on chromosome 15.

EIF2AK4 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.6.

Genetic testing for EIF2AK4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for pulmonary venoocclusive disease 2 has been reported in the published literature.

Phenotype severity distribution: 6 very common features, 15 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for pulmonary venoocclusive disease 2.

12 publications have been identified in PubMed for pulmonary venoocclusive disease 2. Research spans Diagnostic / Biomarker (33%), Epidemiology / Natural History (33%), and Case Report / Case Series (17%).