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
External Links
Disease Ontology
DOID:0060738
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2584 GALK1 galactokinase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P51570 Galactokinase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024