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junctional epidermolysis bullosa non-Herlitz type
Summary
- Synonym
-
- GABEB
- JEB-nH gen
- JEN-nH
- generalized atrophic benign epidermolysis bullosa
- generalized junctional epidermolysis bullosa, non-Herlitz type
- 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.
- Super Class
- autosomal recessive disease junctional epidermolysis bullosa
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| A2A864 | Integrin beta | |
| Q07563 | Collagen alpha-1(XVII) chain | |
| Q61087 | Laminin subunit beta-3 | |
| Q61092 | Laminin subunit gamma-2 | |
| Q61789 | Laminin subunit alpha-3 |
