ATP2C1 encodes ATPase secretory pathway Ca2+ transporting 1 (919 aa). ATP-driven pump that supplies the Golgi apparatus with Ca(2+) and Mn(2+) ions, both essential cofactors for processing and trafficking of newly synthesized proteins in the secretory pathway. Highest expression in Cells EBV-transformed lymphocytes (58.9 TPM) and Cells Cultured fibroblasts (54.7 TPM).

Hailey-Hailey disease is associated with mutations in the ATP2C1 gene on chromosome 3.

The ATP2C1 protein participates in ATP2C1/2:Mg2+ transport cytosolic Ca2+ to Golgi lumen pathway.

ATP2C1 is classified as a druggable target (Druggable Genome, Enzyme, and Transporter categories) with score 0.9.

Genetic testing for ATP2C1 is available. Testing is considered confirmatory for diagnosis.

No approved treatments are currently available for Hailey-Hailey disease. An additional 2 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for Hailey-Hailey disease, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for Hailey-Hailey disease. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Gene therapy approaches for Hailey-Hailey disease have been reported in the published literature.

Phenotype severity distribution: 5 very common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for Hailey-Hailey disease.

109 publications have been identified in PubMed for Hailey-Hailey disease. Kisho has analyzed 87 by research type. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (31%), and Other (10%).

Recent Publications

• Wang Y (2026). [PMID: 41845571](https://pubmed.ncbi.nlm.nih.gov/41845571/). *Int J Dermatol*. [Review / Meta-Analysis]

• Justice J (2026). [PMID: 41725040](https://pubmed.ncbi.nlm.nih.gov/41725040/). *Int J Dermatol*. [Gene Therapy / Novel Therapeutics]

• Gupta P (2026). [PMID: 40975797](https://pubmed.ncbi.nlm.nih.gov/40975797/). *Indian Dermatol Online J*. [Case Report / Case Series]

• Zalla KT (2026). [PMID: 40525691](https://pubmed.ncbi.nlm.nih.gov/40525691/). *Dermatol Surg*. [Case Report / Case Series]

• Schmieder SJ (2026). [PMID: 30137841](https://pubmed.ncbi.nlm.nih.gov/30137841/). *Unknown Journal*. [Review / Meta-Analysis]

• Maekawa M (2026). [PMID: 42158788](https://pubmed.ncbi.nlm.nih.gov/42158788/). *Cureus*. [Case Report / Case Series]

• Zhu L (2026). [PMID: 41536220](https://pubmed.ncbi.nlm.nih.gov/41536220/). *Acta Derm Venereol*. [Case Report / Case Series]

• Antoñanzas J (2026). [PMID: 41856431](https://pubmed.ncbi.nlm.nih.gov/41856431/). *Actas Dermosifiliogr*. [Case Report / Case Series]

• Balado-Simó P (2026). [PMID: 41418906](https://pubmed.ncbi.nlm.nih.gov/41418906/). *Actas Dermosifiliogr*. [Review / Meta-Analysis]

• Zhou MH (2026). [PMID: 41730429](https://pubmed.ncbi.nlm.nih.gov/41730429/). *J Am Acad Dermatol*. [Review / Meta-Analysis]