The cause of the disease is a haploinsufficiency of the enzyme ATP2C1; the ATP2C1 gene is located on chromosome 3, which encodes the protein hSPCA1. A mutation on one copy of the gene causes only half of this necessary protein to be made and the cells of the skin do not adhere together properly due to malformation of intercellular desmosomes, causing acantholysis, blisters and rashes. There is no known cure.
Hailey–Hailey disease
Reis–Bucklers corneal dystrophy
Blount's disease
Fleck corneal dystrophy
Peyronie's disease
Darier's disease
Minor's disease
Chandler's disease