KEGG DISEASE: Epidermolysis bullosa simplex

DISEASE: Epidermolysis bullosa simplex

Entry

H00584                      Disease

Name

Epidermolysis bullosa simplex

Subgroup

Epidermolysis bullosa, hemidesmosomal [DS:H00585]

Supergrp

Epidermolysis bullosa [DS:H01737]

Description

Inherited epidermolysis bullosa is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. The simplex forms of epidermolysis bullosa (EBS) demonstrate blister formation within the basal keratinocytes due to the mutations in the basal keratin genes, KRT5 and KRT14.

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
     H00584  Epidermolysis bullosa simplex
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00584  Epidermolysis bullosa simplex
  nt06541  Cytoskeleton in neurons
   H00584  Epidermolysis bullosa simplex

Pathway

hsa04820

Cytoskeleton in muscle cells

Network

nt06539 Cytoskeleton in muscle cells
nt06541 Cytoskeleton in neurons

Gene

(EBS1) KRT14 [HSA:3861] [KO:K07604]
(EBS2) KRT5 [HSA:3852] [KO:K07605]
(EBS3) DST [HSA:667] [KO:K10382]
(EBS4) EXPH5 [HSA:23086] [KO:K22236]
(EBS5) PLEC1 [HSA:5339] [KO:K10388]
(EBS6) KLHL24 [HSA:54800] [KO:K10461]
(EBS7) CD151 [HSA:977] [KO:K06537]

Other DBs

ICD-11:

EC30

ICD-10:

Q81.0

MeSH:

D016110

OMIM:

131760 131900 131800 601001 619555 619588 619594 619599 609352 131960 615425 615028 131950 226670 612138 616487 617294 609057

Reference

PMID:20616732

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

PMID:20536471

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

PMID:27283507 (KRT14 KRT5)

Authors

Vahidnezhad H, Youssefian L, Saeidian AH, Mozafari N, Barzegar M, Sotoudeh S, Daneshpazhooh M, Isaian A, Zeinali S, Uitto J

Title

KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.

Journal

J Invest Dermatol 136:1897-1901 (2016)
DOI:10.1016/j.jid.2016.05.106

Reference

PMID:26743602 (KRT5)

Authors

Sathishkumar D, Orrin E, Terron-Kwiatkowski A, Browne F, Martinez AE, Mellerio JE, Ogboli M, Hoey S, Ozoemena L, Liu L, Baty D, McGrath JA, Moss C

Title

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.

Journal

J Invest Dermatol 136:719-721 (2016)
DOI:10.1016/j.jid.2015.11.024

Reference

PMID:20164846 (DST)

Authors

Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, Lai-Cheong JE, Gawler J, Owaribe K, Hashimoto T, Mellerio JE, Mee JB, McGrath JA

Title

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

Journal

J Invest Dermatol 130:1551-7 (2010)
DOI:10.1038/jid.2010.19

Reference

PMID:23176819 (EXPH5)

Authors

McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WH, Martinez AE, Mellerio JE, Parsons M

Title

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

Journal

Am J Hum Genet 91:1115-21 (2012)
DOI:10.1016/j.ajhg.2012.10.012

Reference

PMID:25712130 (PLEC1)

Authors

Gostynska KB, Nijenhuis M, Lemmink H, Pas HH, Pasmooij AM, Lang KK, Castanon MJ, Wiche G, Jonkman MF

Title

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.

Journal

Hum Mol Genet 24:3155-62 (2015)
DOI:10.1093/hmg/ddv066

Reference

PMID:27798626 (KLHL24)

Authors

Lin Z, Li S, Feng C, Yang S, Wang H, Ma D, Zhang J, Gou M, Bu D, Zhang T, Kong X, Wang X, Sarig O, Ren Y, Dai L, Liu H, Zhang J, Li F, Hu Y, Padalon-Brauch G, Vodo D, Zhou F, Chen T, Deng H, Sprecher E, Yang Y, Tan X

Title

Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.

Journal

Nat Genet 48:1508-1516 (2016)
DOI:10.1038/ng.3701

Reference

PMID:15265795 (CD151)

Authors

Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ

Title

CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.

Journal

Blood 104:2217-23 (2004)
DOI:10.1182/blood-2004-04-1512

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Network (4)   
   KEGG NETWORK (2)   
   KEGG VARIANT (2)   
Disease (18)   
   OMIM (18)   
Gene (14)   
   KEGG ORTHOLOGY (7)   
   KEGG GENES (7)   
Literature (9)   
   PubMed (9)   
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