EBS
MCID: EPD003
MIFTS: 59

Epidermolysis Bullosa Simplex (EBS) malady

Skin category

Summaries for Epidermolysis Bullosa Simplex

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Epidermolysis bullosa simplex (ebs) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. ebs is classified into two groups of subtypes by the layer of skin at which the peeling originates. the basal subtypes cause skin peeling at the lower layers of the epidermis. the most common basal subtypes include ebs localized, dowling meara ebs, generalized other ebs and ebs with muscular dystrophy. more rarely seen basal subtypes include ebs with mottled pigmentation, ebs with pyloic atreseia, ebs ogna, and ebs circinate migratory.the suprabasal subtypes cause skin peeling at the upper layers of the epidermis and include the rare forms known as lethal acantolythic eb, plakophilin deficiency, and ebs superficialis (ebss). symptoms of ebs range from mild in the weber-cockayne type to severe with blistering that is present at birth or after. milder phenotypes of ebs have blistering confined to the limbs, whereas in the most severe dowling meara type, blisters may also form in the mouth. all of the types are typically caused by mutations in the krt5 and krt14 genes. they are usually inherited in an autosomal dominant pattern, but autosomal recessive inheritance has occurred in rare cases. treatment plans differ depending on severity but typically focus on preventing formation of blisters, caring for blistered skin, and treating infection. last updated: 7/22/2011

MalaCards: Epidermolysis Bullosa Simplex, also known as EBS, is related to epidermolysis bullosa simplex, generalized and epidermolysis bullosa simplex, dowling-meara type, and has symptoms including vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment, nails anomalies and autosomal dominant inheritance. An important gene associated with Epidermolysis Bullosa Simplex is KRT14 (keratin 14), and among its related pathways are Glucocorticoid receptor regulatory network and Cytoskeletal Signaling. The compounds isotretinoin and kalinin have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and t cells, and related mouse phenotypes are pigmentation and digestive/alimentary.

Genetics Home Reference:21 Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering primarily affects the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy.

Wikipedia:64 Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin... more...

GeneReviews summary for ebs

Aliases & Classifications for Epidermolysis Bullosa Simplex

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin


Characteristics (Orphanet epidemiological data):

49
epidermolysis bullosa simplex:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

epidermolysis bullosa simplex 8 19 43 20 22 21 10 45 49 61
ebs 21 49
epidermolysis bullosa simplex superficialis 61
epidermolysis bullosa intraepidermic 43
eeb 49


External Ids:

Disease Ontology8 DOID:4644
MeSH35 D016110
SNOMED-CT57 205585003, 67144006
NCIt40 C84692
ICD10 via Orphanet26 Q81.0

Related Diseases for Epidermolysis Bullosa Simplex

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Epidermolysis Bullosa Simplex family:

epidermolysis bullosa simplex with mottled pigmentation epidermolysis bullosa simplex, localized
epidermolysis bullosa simplex with muscular dystrophy epidermolysis bullosa simplex with migratory circinate erythema
epidermolysis bullosa simplex with pyloric atresia epidermolysis bullosa simplex, recessive 1
epidermolysis bullosa simplex with anodontia/hypodontia

Diseases related to Epidermolysis Bullosa Simplex via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa simplex, generalized31.4KRT5, KRT14
2epidermolysis bullosa simplex, dowling-meara type31.4KRT14, KRT5
3epidermolysis bullosa simplex, localized31.3KRT14, KRT5
4epidermolysis bullosa simplex with mottled pigmentation31.0KRT5
5bullous pemphigoid30.7COL7A1, COL17A1, DST
6junctional epidermolysis bullosa30.6COL17A1
7epidermolytic hyperkeratosis30.6KRT10, KRT1
8epidermolysis bullosa with pyloric atresia30.6ITGB4
9kindler syndrome30.4COL7A1, ITGB4
10congenital ichthyosiform erythroderma30.4FLG, IVL, KRT10
11pachyonychia congenita30.4KRT81, KRTAP11-1, KRT17
12keratoderma30.4KRT17, KRT14, LOR, KRT1
13squamous cell carcinoma30.3COL7A1, COL17A1, ITGB4, FLG, ATP2A2, IVL
14epidermolysis bullosa pruriginosa30.1COL7A1
15epidermolysis bullosa acquisita29.8DST, ITGB4, COL17A1
16epidermolysis bullosa dystrophica29.8FLG, COL7A1
17epidermolysis bullosa simplex, ogna type10.7
18epidermolysis bullosa simplex with muscular dystrophy10.7
19epidermolysis bullosa simplex superficialis10.6
20epidermolysis bullosa simplex with pyloric atresia10.6
21epidermolysis bullosa simplex, recessive 110.6
22peeling skin syndrome10.5
23epidermolysis bullosa simplex with migratory circinate erythema10.5
24epidermolysis bullosa simplex, other generalized10.5
25epidermolysis bullosa simplex, sutosomal recessive 210.5
26epidermolysis bullosa simplex-mp10.5
27epidermolysis bullosa simplex with anodontia/hypodontia10.5
28epidermolysa bullosa simplex with muscular dystrophy10.4
29hair-an syndrome10.4
30recessive dystrophic epidermolysis bullosa10.4
31epidermolysis bullosa, nonspecific, autosomal recessive10.4
32epidermylysis bullosa simplex-mcr10.4
33epidermolysis bullosa, junctional, with pyloric stenosis10.3
34corneal disease10.3
35supratentorial primitive neuroectodermal tumor10.3
36verrucous carcinoma10.3
37n syndrome10.3
38anodontia10.3
39recurrent corneal erosion10.3
40autosomal recessive disease10.3
41vasculitis10.3
42char syndrome10.3
43aplasia cutis congenita10.3
44young syndrome10.3
45ectodermal dysplasia skin fragility syndrome10.3
46epidermolysis bullosa, late-onset localized junctional, with mental retardation10.3
47loose anagen hair syndrome10.3
48toxic epidermal necrolysis10.3
49muscular dystrophy - late onset10.3
50epidermolysis bullosa dystrophica, ad10.3

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex:



Diseases related to epidermolysis bullosa simplex

Clinical Features for Epidermolysis Bullosa Simplex

Sources:
49Orphanet
See all sources


Symptoms:

49 (show all 14)
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • nails anomalies
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • palmoplantar hyperkeratosis/keratoderma
  • chronic skin infection/ulcerations/ulcers/cancrum
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • absent/small fingernails/anonychia of hands
  • gastric/pyloric stenosis
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • abnormal scarring/cheloids/hypertrophic scars
  • abnormal fingernails
  • neoplasms/tumors

Drugs & Therapeutics for Epidermolysis Bullosa Simplex

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Epidermolysis Bullosa Simplex

Drug clinical trials:

Search ClinicalTrials for Epidermolysis Bullosa Simplex

Search NIH Clinical Center for Epidermolysis Bullosa Simplex

Search CenterWatch for Epidermolysis Bullosa Simplex

Genetic Tests for Epidermolysis Bullosa Simplex

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Epidermolysis Bullosa Simplex:

id Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex20 22 KRT14, KRT5

Anatomical Context for Epidermolysis Bullosa Simplex

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex:

33
Breast, Skin, T cells, Tongue

Animal Models for Epidermolysis Bullosa Simplex or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.3DST
2MP:00053819.4COL7A1, ITGB4, ATP2A2, DST, KRT5, KRT14
3MP:00053829.2COL7A1, ITGB4, FLG, KRT5, KRT10, KRT17
4MP:00053878.9LOR, COL17A1, ITGB4, FLG, ATP2A2, TRADD
5MP:00107688.6ATP2A2, FLG, ITGB4, COL17A1, COL7A1, DST
6MP:00107718.5KRT17, LOR, COL7A1, COL17A1, ITGB4, FLG

Publications for Epidermolysis Bullosa Simplex

Sources:
51PubMed
See all sources

Articles related to Epidermolysis Bullosa Simplex:

(show top 50)    (show all 311)
idTitleAuthorsYear
1
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. (23289980)
2013
2
New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy. (23496806)
2013
3
Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex. (23993914)
2013
4
Molecular Heterogeneity of Epidermolysis Bullosa Simplex: Contribution of EXPH5 Mutations. (24005056)
2013
5
Expression signature of epidermolysis bullosa simplex. (21877134)
2012
6
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. (21623745)
2011
7
DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia. (21413955)
2011
8
The experiences of young people with Epidermolysis Bullosa Simplex: a qualitative study. (21441362)
2011
9
Extensive acantholysis as the major histological feature of a severe case of Dowling Meara-epidermolysis bullosa simplex: a reappraisal of acantholysis in the newborn. (21856558)
2011
10
Epidermolysis bullosa simplex with muscular dystrophy. (20447487)
2010
11
Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. (20199538)
2010
12
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. (20016501)
2010
13
Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. (19587453)
2009
14
A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of epidermolysis bullosa simplex. (19220453)
2009
15
A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara. (17659012)
2007
16
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations. (17039244)
2007
17
Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara. (17707151)
2007
18
Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex. (16614722)
2006
19
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). (15681471)
2005
20
Keratotic lesions in epidermolysis bullosa simplex with mottled pigmentation. (15627110)
2005
21
The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15030360)
2004
22
Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case. (15324323)
2004
23
Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. (14987259)
2004
24
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. (12648226)
2003
25
An inducible mouse model for epidermolysis bullosa simplex: implications for gene therapy. (11157990)
2001
26
Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex. (11408584)
2001
27
A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease. (10971341)
2000
28
Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential. (10730767)
2000
29
Leukocytoclastic vasculitis in a child with epidermolysis bullosa simplex. (10770671)
1999
30
Tetracycline and epidermolysis bullosa simplex: a new indication for one of the oldest and most widely used drugs in dermatology? (10456349)
1999
31
Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. (10494094)
1999
32
A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara. (9406827)
1997
33
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. (8799157)
1996
34
Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. (7561171)
1995
35
Immunohistochemical detection of keratin with the monoclonal antibody MNF116 is useful in the diagnosis of epidermolysis bullosa simplex. (7518848)
1994
36
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. (7682883)
1993
37
Epidermolysis bullosa simplex: a disorder of keratin. (1370336)
1992
38
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. (1717157)
1991
39
Cytofluorometric study of lectin binding to the keratinocytes of epidermolysis bullosa simplex. (2127148)
1990
40
Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex. (2471468)
1989
41
Evaluation of the efficacy of topical bufexamac in epidermolysis bullosa simplex. A double-blind placebo-controlled crossover trial. (3178249)
1988
42
Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders: a new syndrome. (2420118)
1985
43
Epidermolysis bullosa simplex with keratoderma of the palms and soles. (3159764)
1985
44
Genetic linkage analysis of epidermolysis bullosa simplex, KAPbner type. (6507503)
1984
45
Generalized dominant epidermolysis bullosa simplex: decreased activity of a gelatinolytic protease in cultured fibroblasts as a phenotypic marker. (6315831)
1983
46
Congenital herpes simplex virus infection initially resembling epidermolysis bullosa. (7143173)
1982
47
Autoantibodies to basement membrane collagen: epidermolysis bullosa simplex versus bullous pemphigoid. (7000866)
1980
48
Epidermolysis bullosa simplex: a case in which tooth reimplantation was unsuccessful. (5173284)
1971
49
CONGENITAL EPIDERMOLYSIS BULLOSA SIMPLEX. (14192031)
1964
50
EPIDERMOLYSIS BULLOSA SIMPLEX IN TASMANIA. (14052060)
1963

Genetic Variations for Epidermolysis Bullosa Simplex

Expression for genes affiliated with Epidermolysis Bullosa Simplex

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Epidermolysis Bullosa Simplex

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex.

Pathways for genes affiliated with Epidermolysis Bullosa Simplex

Sources:
38NCBI BioSystems Database, 4Cell Signaling Technology, 54Reactome, 52QIAGEN, 12EMD Millipore
See all sources

Compounds for genes affiliated with Epidermolysis Bullosa Simplex

Sources:
45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience, 2BitterDB, 29IUPHAR, 50PharmGKB
See all sources

Compounds related to Epidermolysis Bullosa Simplex according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1isotretinoin45 1111.3KRT10, KRT14, KRT1
2kalinin4510.3ITGB4, DST, KRT5
3tazarotene45 1111.3KRT1, KRT10
4collodion4510.3IVL, LOR
5acitretin45 1111.2KRT17, KRT5, IVL
6epsilon-(gamma-glutamyl)lysine4510.2IVL, LOR
7dithranol4510.2KRT10, IVL, FLG
8arsenate4510.2IVL, FLG
9phenylalanine4510.1COL17A1, KRT5, KRT1, KRT14
10asparagine4510.1KRT17, KRT1, KRT5
11urea45 11 2412.1FLG, IVL, KRT5, KRT14
12histidine4510.0LOR, FLG, KRT5, KRT14, KRT10
13bromodeoxyuridine4510.0FLG, IVL, KRT1, KRT14, KRT10
1412-o-tetradecanoylphorbol 13-acetate459.9KRT1, KRT5, DST, IVL
15sodium dodecylsulfate459.9KRT17, KRT1, IVL
16gold459.9DST, IVL, COL17A1
17arginine459.8COL7A1, FLG, KRT5, KRT1, KRT14, KRT10
18gf 109203x45 6010.8FLG, IVL, KRT10
19hematoxylin459.8LOR, FLG, IVL, KRT1, KRT14, KRT10
20retinoid459.7FLG, IVL, KRT5, KRT1, KRT14, KRT10
21paraffin459.7IVL, DST, KRT5, KRT1, KRT14, KRT10
22proline459.7LOR, COL17A1, IVL, KRT5, KRT1, KRT14
23steroid459.6LOR, COL17A1, FLG, IVL, KRT1, KRT10
24hydrocortisone45 2 60 1112.6KRT17, KRT14, IVL
25calcipotriol45 60 29 1112.6KRT15, ITGB4, FLG, IVL, KRT5, KRT14
26tyrosine459.1COL17A1, ITGB4, FLG, IVL, KRT5, KRT1
27retinoic acid45 2410.1LOR, ITGB4, FLG, IVL, KRT5, KRT1
28calcium45 50 11 2411.7LOR, COL17A1, ITGB4, FLG, ATP2A2, IVL
29serine458.6LOR, COL7A1, COL17A1, ITGB4, FLG, ATP2A2

GO Terms for genes affiliated with Epidermolysis Bullosa Simplex

Sources:
16Gene Ontology
See all sources

Cellular components related to Epidermolysis Bullosa Simplex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cornified envelopeGO:00153310.0IVL, LOR
2hemidesmosomeGO:0300569.9PLEC, DST, ITGB4, COL17A1
3cell peripheryGO:0719449.9KRT17, KRT14
4basement membraneGO:0056049.8COL7A1, COL17A1, ITGB4, DST
5keratin filamentGO:0450959.5KRT5, KRT1, KRT81, KRT14, KRT10, KRTAP11-1
6intermediate filamentGO:0058829.3KRT17, BFSP2, FLG, DST, KRT5, KRT14
7cytoplasmGO:0057378.5LOR, BFSP2, IVL, DST, TRADD, PLEC

Biological processes related to Epidermolysis Bullosa Simplex according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cell motilityGO:04887010.1DST, ITGB4
2positive regulation of hair follicle developmentGO:05179810.0TRADD, KRT17
3cell junction assemblyGO:0343299.9COL17A1, ITGB4, PLEC, KRT5, KRT14
4peptide cross-linkingGO:0181499.9TGM5, IVL, LOR
5keratinizationGO:0314249.9KRT17, IVL, LOR
6intermediate filament cytoskeleton organizationGO:0451049.9DST, BFSP2
7keratinocyte differentiationGO:0302169.8LOR, FLG, IVL, KRT10
8hemidesmosome assemblyGO:0315819.8KRT14, COL17A1, ITGB4, DST, PLEC, KRT5
9extracellular matrix organizationGO:0301989.7COL7A1, COL17A1, ITGB4, DST, PLEC
10epidermis developmentGO:0085449.3COL7A1, COL17A1, ATP2A2, KRT5, KRT14, KRT15

Molecular functions related to Epidermolysis Bullosa Simplex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.3KRT17, KRT15, KRT14, KRT5, BFSP2, LOR
2structural molecule activityGO:0051988.9LOR, FLG, IVL, KRT1, KRT81, KRTAP11-1
3protein bindingGO:0055158.0COL7A1, COL17A1, ITGB4, ATP2A2, DST, TRADD

Products for genes affiliated with Epidermolysis Bullosa Simplex

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  • Proteins
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  • Antibodies

Sources for Epidermolysis Bullosa Simplex

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet