KEGG   DISEASE: Epidermolysis bullosa, hemidesmosomal
Entry
H00585                      Disease                                
Name
Epidermolysis bullosa, hemidesmosomal
  Subgroup
Epidermolysis bullosa simplex, Ogna type (EBS-Ogna)
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD)
Epidermolysis bullosa simplex with pyloric atresia (EBS-PA)
  Supergrp
Epidermolysis bullosa simplex [DS:H00584]
Epidermolysis bullosa [DS:H01737]
Description
Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The conditions in which the blister formation occurs at the level of hemidesmosome are classified as hemidesmosomal variants, that is subtype of epidermolysis bullosa simplex.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   Genetically-determined epidermolysis bullosa
    EC30  Epidermolysis bullosa simplex
     H00585  Epidermolysis bullosa, hemidesmosomal
Gene
PLEC [HSA:5339] [KO:K10388]
Other DBs
ICD-11: EC30
MeSH: C535962 C535955 C567408
OMIM: 131950 226670 612138
Reference
PMID:15708287
  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
PMID:20507384
  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
PMID:11851880 (EBS-Ogna)
  Authors
Koss-Harnes D, Hoyheim B, Anton-Lamprecht I, Gjesti A, Jorgensen RS, Jahnsen FL, Olaisen B, Wiche G, Gedde-Dahl T Jr
  Title
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.
  Journal
J Invest Dermatol 118:87-93 (2002)
DOI:10.1046/j.0022-202x.2001.01591.x
Reference
PMID:20016501 (EBS-MD)
  Authors
Bolling MC, Pas HH, de Visser M, Aronica E, Pfendner EG, van den Berg MP, Diercks GF, Suurmeijer AJ, Jonkman MF
  Title
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.
  Journal
J Invest Dermatol 130:1178-81 (2010)
DOI:10.1038/jid.2009.390
Reference
PMID:15681471 (EBS-PA)
  Authors
Nakamura H, Sawamura D, Goto M, Nakamura H, McMillan JR, Park S, Kono S, Hasegawa S, Paku S, Nakamura T, Ogiso Y, Shimizu H
  Title
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).
  Journal
J Mol Diagn 7:28-35 (2005)
DOI:10.1016/S1525-1578(10)60005-0
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