Features include very common findings: Palmoplantar keratoderma, Erythroderma, Irregular hyperpigmentation, and Papule; and common findings: Subungual hyperkeratosis, Pruritus, Thickened skin, and Abnormal nail morphology. 20 total HPO annotations.

CARD14 encodes caspase recruitment domain family member 14 (1,004 aa). Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways. Highest expression in Skin Sun Exposed Lower leg (21.0 TPM) and Skin Not Sun Exposed Suprapubic (18.9 TPM).

Familial pityriasis rubra pilaris is associated with mutations in the CARD14 gene on chromosome 17.

CARD14 is classified as a druggable target (Kinase and Transcription Factor categories) with score 0.0.

Genetic testing for CARD14 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial pityriasis rubra pilaris has been reported in the published literature.

Phenotype severity distribution: 4 very common features, 4 common features.

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

2 clinical trials registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE4, 1 PHASE2. Research is primarily sponsored by academic and government institutions.

102 publications have been identified in PubMed for familial pityriasis rubra pilaris. Research spans Case Report / Case Series (44%), Review / Meta-Analysis (24%), and Other (17%).