DSP encodes desmoplakin (2,871 aa). A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Highest expression in Skin Sun Exposed Lower leg (1,294 TPM) and Skin Not Sun Exposed Suprapubic (1,155 TPM).

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma is caused by mutations in the DSP gene on chromosome 6.

The DSP protein participates in DSPGs are secreted pathway.

DSP is classified as a druggable target with score 1.8.

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

Biomarker and diagnostic research for arrhythmogenic cardiomyopathy with wooly hair and keratoderma has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 1 very common feature, 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for arrhythmogenic cardiomyopathy with wooly hair and keratoderma.

128 publications have been identified in PubMed for arrhythmogenic cardiomyopathy with wooly hair and keratoderma. Research spans Basic Science / Preclinical (39%), Review / Meta-Analysis (27%), and Case Report / Case Series (13%).

Recent Publications

• Yamanaka R (2026). [PMID: 41549123](https://pubmed.ncbi.nlm.nih.gov/41549123/). *Hypertens Res*. [Basic Science / Preclinical]

• Protonotarios I (2026). [PMID: 41936932](https://pubmed.ncbi.nlm.nih.gov/41936932/). *Hellenic J Cardiol*. [Review / Meta-Analysis]

• Tosun D (2026). [PMID: 41608912](https://pubmed.ncbi.nlm.nih.gov/41608912/). *Cardiol Young*. [Other]

• Sapienza M (2026). [PMID: 41851710](https://pubmed.ncbi.nlm.nih.gov/41851710/). *J Orthop Surg Res*. [Review / Meta-Analysis]

• Brandt E (2026). [PMID: 41108751](https://pubmed.ncbi.nlm.nih.gov/41108751/). *Clin Exp Dermatol*. [Basic Science / Preclinical]

• Richman DE (2026). [PMID: 41698922](https://pubmed.ncbi.nlm.nih.gov/41698922/). *Nat Commun*. [Case Report / Case Series]

• Tsatsopoulou A (2026). [PMID: 40316016](https://pubmed.ncbi.nlm.nih.gov/40316016/). *Hellenic J Cardiol*. [Review / Meta-Analysis]

• Lecký P (2026). [PMID: 41988554](https://pubmed.ncbi.nlm.nih.gov/41988554/). *Eur J Case Rep Intern Med*. [Case Report / Case Series]

• Gong S (2026). [PMID: 41483147](https://pubmed.ncbi.nlm.nih.gov/41483147/). *Neurosci Bull*. [Basic Science / Preclinical]

• Wang Y (2026). [PMID: 41894777](https://pubmed.ncbi.nlm.nih.gov/41894777/). *Phys Rev Lett*. [Basic Science / Preclinical]