KEGG   DISEASE: Epidermolysis bullosa, junctionalHelp
Entry
H00586                      Disease                                

Name
Epidermolysis bullosa, junctional
  Subgroup
Epidermolysis bullosa, junctional, Herlitz type (JEB-H)
Epidermolysis bullosa, junctional, non-Herlitz type (JEB-nH)
Epidermolysis bullosa, junctional, with pyloric atresia (JEB-PA)
  Supergrp
Epidermolysis bullosa [DS:H01737]
Description
Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa are characterized by blister formation within the lamina lucida of the dermal-epidermal basement membrane. Herlitz subtype, the classic form of the disease, shows a severe phenotype that may lead to death during infancy or early childhood owing to infection.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00586  Epidermolysis bullosa, junctional
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   Genetically-determined epidermolysis bullosa
    EC31  Junctional epidermolysis bullosa
     H00586  Epidermolysis bullosa, junctional
BRITE hierarchy
Pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04514  Cell adhesion molecules (CAMs)
hsa04810  Regulation of actin cytoskeleton
Gene
(JEB-H, JEB-nH) LAMA3 [HSA:3909] [KO:K06240]
(JEB-H, JEB-nH) LAMB3 [HSA:3914] [KO:K06244]
(JEB-H, JEB-nH) LAMC2 [HSA:3918] [KO:K06246]
(JEB-nH) COL17A1 [HSA:1308] [KO:K07603]
(JEB-PA) ITGB4 [HSA:3691] [KO:K06525]
(JEB-PA) ITGA6 [HSA:3655] [KO:K06485]
Other DBs
ICD-11: EC31
ICD-10: Q81
MeSH: D016109
OMIM: 226700 226650 226730
Reference
  Authors
Fine JD
  Title
Inherited epidermolysis bullosa: recent basic and clinical advances.
  Journal
Curr Opin Pediatr 22:453-8 (2010)
DOI:10.1097/MOP.0b013e32833bb74f
Reference
  Authors
Fine JD
  Title
Inherited epidermolysis bullosa: past, present, and future.
  Journal
Ann N Y Acad Sci 1194:213-22 (2010)
DOI:10.1111/j.1749-6632.2010.05463.x
Reference
  Authors
Uitto J, Richard G
  Title
Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.
  Journal
Clin Dermatol 23:33-40 (2005)
DOI:10.1016/j.clindermatol.2004.09.015
Reference
  Authors
Sawamura D, Nakano H, Matsuzaki Y
  Title
Overview of epidermolysis bullosa.
  Journal
J Dermatol 37:214-9 (2010)
DOI:10.1111/j.1346-8138.2009.00800.x
Reference
  Authors
Fine JD
  Title
Inherited epidermolysis bullosa.
  Journal
Orphanet J Rare Dis 5:12 (2010)
DOI:10.1186/1750-1172-5-12

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