junctional epidermolysis bullosa non-Herlitz type

Term ID

DOID:0060738

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

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. (5)

References

• ICD10CM:Q81.8
• MIM:226650
• ORDO:79402
• ORDO:89840

Ontology

Human Disease   ( DOID:0060738 )