DISEASE: Acantholytic blistering of the oral and laryngeal mucosa
Entry
H02648 Disease
Name
Acantholytic blistering of the oral and laryngeal mucosa
Description
Acantholytic blistering of the oral and laryngeal mucosa (ABOLM) is a rare disease characterized by recurrent erosions in a tongue and laryngeal mucosa. Skin, conjunctival and genital mucosa, hair, and nails are unaffected. It has been reported that mutations in DSG3 cause this disease. DSG3 encodes a desmosomal cadherin that is expressed predominantly in the basal layer.
Category
Digestive system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
13 Diseases of the digestive system
Diseases or disorders of orofacial complex
DA01 Disorders of oral mucosa
H02648 Acantholytic blistering of the oral and laryngeal mucosa
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06545 Cornified envelope formation
H02648 Acantholytic blistering of the oral and laryngeal mucosa
