EBS
MCID: EPD003
MIFTS: 63

Epidermolysis Bullosa Simplex (EBS) malady

Skin diseases category

Summaries for Epidermolysis Bullosa Simplex

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
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
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
48Orphanet
See all sources


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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex:

32
Skin, Testes, Tongue, Breast

Animal Models for Epidermolysis Bullosa Simplex or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Epidermolysis Bullosa Simplex:

(show top 50)    (show all 311)
idTitleAuthorsYear
1
Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients. (23774525)
2014
2
Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation. (23103015)
2013
3
The pathogenetic role of IL-1I^ in severe epidermolysis bullosa simplex. (23344459)
2013
4
Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy. (23889190)
2013
5
A novel keratin 5 mutation in an African family with Epidermolysis bullosa simplex indicates the importance of the amino acid located at the boundary site between the H1 and coil 1A domains. (23450297)
2013
6
Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. (22113475)
2012
7
Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. (21375516)
2011
8
Missense mutation at the helix termination region in the 2B domain of keratin 14 in a Japanese family with epidermolysis bullosa simplex, generalized, other. (21413954)
2011
9
A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue. (20096008)
2010
10
Plectin gene defects lead to various forms of epidermolysis bullosa simplex. (19945614)
2010
11
A transient epidermolysis bullosa simplex-like phenotype associated with bexarotene treatment in a G138E KRT5 heterozygote. (20849457)
2010
12
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. (20665883)
2010
13
Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: a case report. (20044146)
2010
14
Successful radiation therapy for supratentorial primitive neuroectodermal tumor and epidermolysis bullosa simplex. (19760773)
2010
15
Weber-Cockayne type of epidermolysis bullosa simplex associated with a novel mutation in keratin 5 and amyloid deposits. (18764844)
2008
16
Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation. (17855059)
2007
17
Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient. (17229601)
2006
18
Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15982306)
2005
19
Epidermolysis bullosa simplex associated with muscular dystrophy and cardiac involvement. (19078768)
2005
20
Gene symbol: KRT14. Disease: epidermolysis bullosa simplex, Koebner. (15300974)
2004
21
Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen. (15377356)
2004
22
A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex. (14723728)
2004
23
Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. (14963703)
2004
24
Epidermolysis bullosa simplex: localized (Weber-Cockayne type). (15690931)
2004
25
Severe palmo-plantar hyperkeratosis in Koebner epidermolysis bullosa simplex. (12692381)
2003
26
Epidermolysis bullosa simplex keratinocytes with extended lifespan established by ectopic expression of telomerase. (12631249)
2003
27
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. (11851880)
2002
28
Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation. (11167681)
2001
29
Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene. (10652001)
2000
30
A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex. (10583131)
1999
31
Two familial cases of epidermolysis bullosa simplex successfully treated with tetracycline. (10456363)
1999
32
Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14). (9804355)
1998
33
A novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex. (9740251)
1998
34
A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. (9129237)
1997
35
MA1nchausen's syndrome with congenital generalized epidermolysis bullosa simplex. (9059700)
1997
36
Plectin abnormality in epidermolysis bullosa simplex Ogna: non-responsiveness of basal keratinocytes to some anti-rat plectin antibodies. (9067706)
1997
37
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. (8875963)
1996
38
Autosomal recessive epidermolysis bullosa simplex. A case report. (8305300)
1994
39
A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375. (7506606)
1993
40
Epidermolysis bullosa simplex associated with spinal muscle atrophy. (8407076)
1993
41
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. (7526933)
1993
42
Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. (1721080)
1991
43
A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases. (1721910)
1991
44
Epidermolysis bullosa simplex with mottled pigmentation. (2474016)
1989
45
Epidermolysis bullosa simplex: identification of a kindred with autosomal recessive transmission of the Weber-Cockayne variety. (2539587)
1989
46
Blistering eruption in healthy newborns. Case 1. Epidermolysis bullosa simplex. (3947129)
1986
47
A specific defect in glycosylation of epidermal cell membranes. Definition in skin from patients with epidermolysis bullosa simplex. (2412497)
1985
48
Epidermolysis bullosa simplex generalisata: importance of immunofluorescence studies in early diagnosis. (6762155)
1982
49
GPT--epidermolysis bullosa simplex (EBS Ogna) linkage in man. (4760576)
1973
50
Laeso disease; epidermolysis bullosa simplex. (13137902)
1953

Genetic Variations for Epidermolysis Bullosa Simplex

About this section

Expression for genes affiliated with Epidermolysis Bullosa Simplex

About this section
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

About this section
Sources:
37NCBI BioSystems Database, 4Cell Signaling Technology, 53Reactome, 51QIAGEN, 12EMD Millipore
See all sources

Compounds for genes affiliated with Epidermolysis Bullosa Simplex

About this section
Sources:
44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 2BitterDB, 28IUPHAR, 49PharmGKB
See all sources

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

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Epidermolysis Bullosa Simplex

About this section
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