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Hailey-Hailey disease

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).
Uniprot Description Autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD.
Disease Ontology Description A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin.
Mondo Term and Equivalent IDs
MONDO:0008218:  Hailey-Hailey disease
GARD:0006559: 
MESH:D016506: 
NCIT:C82865: 
Orphanet:2841: 
SCTID:79468000: 
UMLS:C0085106: