junctional epidermolysis bullosa non-Herlitz type (DOID:0060738)
Alliance: disease page
Synonyms: GABEB; generalized atrophic benign epidermolysis bullosa; generalized junctional epidermolysis bullosa, non-Herlitz type; JEB-nH gen; JEN-nH; junctional epidermolysis bullosa generalisata mitis; junctional epidermolysis bullosa, Disentis type
Alt IDs: OMIM:226650, ICD10CM:Q81.8, ORDO:79402, ORDO:89840
Definition: A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.