Features include very common findings: Hypermelanotic macule, Acrokeratosis, Subungual hyperkeratotic fragments, and Pruritus and others; and common findings: Palmar pits, Plantar pits, Longitudinal erythronychia, and Blepharitis and others. 30 total HPO annotations.

ATP2A2 encodes ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 (1,042 aa). This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen. Highest expression in Muscle Skeletal (1,018 TPM) and Heart Atrial Appendage (634.6 TPM).

Darier disease is associated with mutations in the ATP2A2 gene on chromosome 12.

ATP2A2 is classified as a druggable target (Druggable Genome, Enzyme, and Transporter categories) with score 2.3.

Genetic testing for ATP2A2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Darier disease has been reported in the published literature.

Phenotype severity distribution: 6 very common features, 12 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

1 clinical trial registered, 1 recruiting. Interventions under study include procedural interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

125 publications have been identified in PubMed for Darier disease. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (18%), and Review / Meta-Analysis (14%).