Preferred Label : Hailey-Hailey disease;
ICD-11 definition : Hailey–Hailey disease is a rare hereditary autosomal dominant intraepidermal, blistering
disease characterized by recurrent vesicles and erosions, usually affecting the neck,
axillae and groins. It is caused by mutations in one copy of ATP2C1, a gene on chromosome
3q21 that encodes the human secretory-pathway Ca2 /Mn2 -ATPase isoform 1 (hSPCA1)
on the Golgi membrane.;
ICD-11 synonym : Gougerot-Hailey-Hailey disease; Benign familial pemphigus; Hailey-Hailey disease (MIM 169600);
ICD-11 inclusion : Benign familial pemphigus;
Origin ID : 818400628;
UMLS CUI : C0085106;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Hailey–Hailey disease is a rare hereditary autosomal dominant intraepidermal, blistering
disease characterized by recurrent vesicles and erosions, usually affecting the neck,
axillae and groins. It is caused by mutations in one copy of ATP2C1, a gene on chromosome
3q21 that encodes the human secretory-pathway Ca2 /Mn2 -ATPase isoform 1 (hSPCA1)
on the Golgi membrane.