Features include always present findings: Palpitations; and common findings: Chest pain and Left bundle branch block. 7 total HPO annotations.

CDH2 encodes cadherin 2 (906 aa). Calcium-dependent cell adhesion protein; preferentially mediates homotypic cell-cell adhesion by dimerization with a CDH2 chain from another cell. Highest expression in Heart Left Ventricle (67.5 TPM) and Adrenal Gland (66.1 TPM).

Arrhythmogenic right ventricular dysplasia, familial, 14 is associated with mutations in the CDH2 gene on chromosome 18.

The CDH2 protein participates in MITF-M-dependent CDH2 gene expression, Expression of PCDH19 in the nephric duct, and Expression of WFDC2 in the nephric duct pathways.

CDH2 is classified as a druggable target (Cell Surface and Druggable Genome categories) with score 34.8.

Genetic testing for CDH2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for arrhythmogenic right ventricular dysplasia, familial, 14 has been reported in the published literature.

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

No clinical trials have been registered for arrhythmogenic right ventricular dysplasia, familial, 14.

41 publications have been identified in PubMed for arrhythmogenic right ventricular dysplasia, familial, 14. Research spans Epidemiology / Natural History (29%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (17%).