EBS
MCID: EPD003
MIFTS: 63

Epidermolysis Bullosa Simplex (EBS) malady

Skin diseases category

Summaries for Epidermolysis Bullosa Simplex

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 and epidermolysis bullosa simplex, generalized, and has symptoms including neoplasms/tumors, abnormal fingernails and abnormal scarring/cheloids/hypertrophic scars. 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 skin, testes and tongue, 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:63 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

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 20 22 21 10 44 48 60
ebs 21 48
epidermolysis bullosa simplex superficialis 60
epidermolysis bullosa intraepidermic 42
eeb 48


External Ids:

Disease Ontology8 DOID:4644
MeSH34 D016110
NCIt39 C84692
SNOMED-CT56 205585003, 67144006
SNOMED-CT via Orphanet57 67144006
ICD10 via Orphanet26 Q81.0

Related Diseases for Epidermolysis Bullosa Simplex

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17GeneCards, 18GeneDecks
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Diseases in the Epidermolysis Bullosa Simplex, Localized family:

epidermolysis bullosa simplex Epidermolysis Bullosa Simplex, Recessive 1

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

(show top 50)    (show all 112)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa32.2KRT14, PLEC, COL17A1, KRT5, ITGB4, COL7A1
2epidermolysis bullosa simplex, generalized31.2KRT5, KRT14
3epidermolysis bullosa simplex, localized31.1KRT14, KRT5
4epidermolysis bullosa simplex, dowling-meara type31.1KRT5, KRT14
5epidermolysis bullosa simplex with mottled pigmentation31.0KRT5
6epidermolysis bullosa with pyloric atresia30.8ITGB4
7junctional epidermolysis bullosa30.7COL17A1
8bullous pemphigoid30.7COL17A1, DST, COL7A1
9epidermolytic hyperkeratosis30.6KRT1, KRT10
10congenital ichthyosiform erythroderma30.3IVL, KRT10, FLG
11pachyonychia congenita30.3KRTAP11-1, KRT17, KRT81
12squamous cell carcinoma30.3KRT15, DST, KRT14, COL7A1, IVL, FLG
13epidermolysis bullosa pruriginosa30.1COL7A1
14breast cancer30.0KRT5, ITGB4, KRT14, KRT1, KRT15, IVL
15epidermolysis bullosa acquisita29.8DST, COL17A1, ITGB4
16epidermolysis bullosa dystrophica29.8COL7A1, FLG
17lung cancer29.8KRT14, KRT1, IVL, KRT5
18muscular dystrophy10.9
19epidermolysis bullosa simplex, ogna type10.7
20epidermolysis bullosa simplex with muscular dystrophy10.7
21epidermolysis bullosa simplex-mp10.6
22epidermolysis bullosa simplex with pyloric atresia10.6
23epidermolysis bullosa simplex with anodontia/hypodontia10.6
24epidermolysis bullosa simplex superficialis10.6
25epidermolysis bullosa simplex, sutosomal recessive 210.5
26epidermolysis bullosa simplex, recessive 110.5
27epidermolysis bullosa simplex with migratory circinate erythema10.5
28epidermolysis bullosa simplex, other generalized10.5
29congenital muscular dystrophy10.4
30melanoma10.4
31epidermolysa bullosa simplex with muscular dystrophy10.4
32ectodermal dysplasia skin fragility syndrome10.4
33epidermylysis bullosa simplex-mcr10.4
34nasopharyngitis10.3
35epidermolysis bullosa, junctional, with pyloric stenosis10.3
36corneal disease10.2
37x-linked ichthyosis10.2
38supratentorial primitive neuroectodermal tumor10.2
39keratinizing squamous cell carcinoma10.2
40verrucous carcinoma10.2
41anodontia10.2
42recurrent corneal erosion10.2
43autosomal recessive disease10.2
44dilated cardiomyopathy10.2
45laryngitis10.2
46myopathy10.2
47neuromuscular disease10.2
48neuromuscular junction disease10.2
49ophthalmoplegia10.2
50pigmentation disease10.2

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



Diseases related to epidermolysis bullosa simplex

Clinical Features for Epidermolysis Bullosa Simplex

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48Orphanet
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Symptoms:

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

Drugs & Therapeutics for Epidermolysis Bullosa Simplex

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Epidermolysis Bullosa Simplex:

32
Skin, Testes, Tongue, Breast

Animal Models for Epidermolysis Bullosa Simplex or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex:

36
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

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50PubMed
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Articles related to Epidermolysis Bullosa Simplex:

(show top 50)    (show all 311)
idTitleAuthorsYear
1
Coexistence of KRT14 and KRT5 mutations in Polish patient with Epidermolysis Bullosa Simplex. (24024749)
2013
2
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. (24019772)
2013
3
MMP-9 and CXCL8/IL-8 are potential therapeutic targets in epidermolysis bullosa simplex. (23894602)
2013
4
Expression of a mutated allele, non-reduced by aging, in a Japanese family with localized epidermolysis bullosa simplex due to a novel mutation, p.Arg169Gly, of keratin 5 gene. (23588208)
2013
5
Gene expression analysis of an epidermolysis bullosa simplex Dowling-Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing. (22168818)
2012
6
Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stress-induced keratin aggregation: involvement of heat shock proteins and MAP kinases. (21490615)
2011
7
Localized epidermolysis bullosa simplex (Weber-Cockayne type). (22206097)
2011
8
Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation]. (22161089)
2011
9
The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex. (21844930)
2011
10
A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex. (19797037)
2010
11
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. (20164844)
2010
12
Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex. (20060687)
2010
13
Characterization of immortalized human epidermolysis bullosa simplex (KRT5) cell lines: trimethylamine N-oxide protects the keratin cytoskeleton against disruptive stress condition. (19157792)
2009
14
Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with KAPbner-type epidermolysis bullosa simplex. (17040498)
2006
15
Localized epidermolysis bullosa simplex with generalized enamel hypoplasia in a child. (16650229)
2006
16
Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex. (16792776)
2006
17
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. (16882168)
2006
18
'Neural network' algorithm to predict severity in epidermolysis bullosa simplex. (16394384)
2005
19
Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland. (15827748)
2005
20
A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire. (15955091)
2005
21
Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation. (15206692)
2004
22
A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex. (15347343)
2004
23
Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. (14675180)
2003
24
Epidermolysis bullosa simplex in Israel: clinical and genetic features. (12707098)
2003
25
Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex. (12930305)
2003
26
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. (12655565)
2003
27
Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations. (12890194)
2003
28
A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex. (11990248)
2002
29
Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14. (11869205)
2002
30
Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex. (11918708)
2002
31
Congenital pyloric atresia in a newborn with extensive aplasia cutis congenita and epidermolysis bullosa simplex. (11122061)
2000
32
Junctional epidermolysis bullosa with pyloric stenosis presenting with electron microscopic findings suggestive of epidermolysis bullosa simplex. (11085671)
2000
33
Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex. (10234505)
1999
34
Abnormalities of basal cell keratin in epidermolysis bullosa simplex do not affect the expression patterns of suprabasal keratins and cornified cell envelope proteins. (9860278)
1998
35
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. (9036937)
1997
36
Is cyproheptadine effective in the treatment of subjects with epidermolysis bullosa simplex-Dowling-Meara? (9041851)
1997
37
Epidermolysis bullosa simplex herpetiformis of Dowling-Meara with mottled pigmentation: the relationship between EBS herpetiformis and EBS with mottled pigmentation. (8844751)
1996
38
Mutations in epidermolysis bullosa simplex. (7561153)
1995
39
Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. (7534039)
1995
40
A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex. (7526926)
1994
41
Epidermolysis bullosa simplex associated with muscular dystrophy: a new case. (7899187)
1994
42
A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. (7525408)
1994
43
Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. (7682695)
1993
44
Bullous pemphigoid antigens (BPAGs): identification of RFLPs in human BPAG1 and BPAG2, and exclusion as candidate genes in a large kindred with dominant epidermolysis bullosa simplex. (1686013)
1991
45
Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases. (2662909)
1989
46
Abnormal binding of lectin to the epidermal cell membranes in the skin of epidermolysis bullosa simplex. (3146858)
1988
47
Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance. (3355199)
1988
48
Epidermolysis bullosa simplex. (2959982)
1987
49
Corneal involvement in epidermolysis bullosa simplex. (7362501)
1980
50
Genetic study of hereditary type of epidermolysis bullosa simplex. (14902118)
1952

Genetic Variations for Epidermolysis Bullosa Simplex

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Expression for genes affiliated with Epidermolysis Bullosa Simplex

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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37NCBI BioSystems Database, 4Cell Signaling Technology, 53Reactome, 51QIAGEN, 12EMD Millipore
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Compounds for genes affiliated with Epidermolysis Bullosa Simplex

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44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 2BitterDB, 28IUPHAR, 49PharmGKB
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Compounds related to Epidermolysis Bullosa Simplex according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1isotretinoin44 1111.3KRT10, KRT14, KRT1
2kalinin4410.3ITGB4, DST, KRT5
3tazarotene44 1111.3KRT1, KRT10
4collodion4410.3IVL, LOR
5acitretin44 1111.2KRT17, KRT5, IVL
6epsilon-(gamma-glutamyl)lysine4410.2IVL, LOR
7dithranol4410.2KRT10, IVL, FLG
8arsenate4410.2IVL, FLG
9phenylalanine4410.1COL17A1, KRT5, KRT1, KRT14
10asparagine4410.1KRT17, KRT1, KRT5
11urea44 11 2412.1FLG, IVL, KRT5, KRT14
12histidine4410.0LOR, FLG, KRT5, KRT14, KRT10
13bromodeoxyuridine4410.0FLG, IVL, KRT1, KRT14, KRT10
1412-o-tetradecanoylphorbol 13-acetate449.9KRT1, KRT5, DST, IVL
15sodium dodecylsulfate449.9KRT17, KRT1, IVL
16gold449.9DST, IVL, COL17A1
17arginine449.8COL7A1, FLG, KRT5, KRT1, KRT14, KRT10
18gf 109203x44 5910.8FLG, IVL, KRT10
19hematoxylin449.8LOR, FLG, IVL, KRT1, KRT14, KRT10
20retinoid449.7FLG, IVL, KRT5, KRT1, KRT14, KRT10
21paraffin449.7IVL, DST, KRT5, KRT1, KRT14, KRT10
22proline449.7LOR, COL17A1, IVL, KRT5, KRT1, KRT14
23steroid449.6LOR, COL17A1, FLG, IVL, KRT1, KRT10
24hydrocortisone44 2 59 1112.6KRT17, KRT14, IVL
25calcipotriol44 59 28 1112.6KRT15, ITGB4, FLG, IVL, KRT5, KRT14
26tyrosine449.1COL17A1, ITGB4, FLG, IVL, KRT5, KRT1
27retinoic acid44 2410.1LOR, ITGB4, FLG, IVL, KRT5, KRT1
28calcium44 49 11 2411.7LOR, COL17A1, ITGB4, FLG, ATP2A2, IVL
29serine448.6LOR, COL7A1, COL17A1, ITGB4, FLG, ATP2A2

GO Terms for genes affiliated with Epidermolysis Bullosa Simplex

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16Gene Ontology
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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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  • Antibodies
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Sources for Epidermolysis Bullosa Simplex

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet