MCID: EPD003
MIFTS: 53

Epidermolysis Bullosa Simplex malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Epidermolysis Bullosa Simplex

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Epidermolysis Bullosa Simplex, Aliases & Descriptions:

Name: Epidermolysis Bullosa Simplex 9 19 41 20 21 11 43 22 60
Ebs 41 21
 
Epidermolysis Bullosa Intraepidermic 41
Eeb 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases


External Ids:

Disease Ontology9 DOID:4644
MeSH33 D016110
SNOMED-CT55 205585003, 67144006
NCIt38 C84692
ICD1025 Q81.0

Summaries for Epidermolysis Bullosa Simplex

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NIH Rare Diseases:41 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 based summary: Epidermolysis Bullosa Simplex, also known as ebs, is related to epidermolysis bullosa simplex-mp and epidermolysis bullosa simplex, dowling-meara type, and has symptoms including abnormal blistering of the skin, palmoplantar keratoderma and abnormality of skin pigmentation. An important gene associated with Epidermolysis Bullosa Simplex is KRT14 (keratin 14), and among its related pathways are Glucocorticoid receptor regulatory network and Corticotropin-releasing hormone. The compounds isotretinoin and hematoxylin have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and breast, 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

Related Diseases for Epidermolysis Bullosa Simplex

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Diseases in the Epidermolysis Bullosa Simplex family:

Epidermolysis Bullosa Simplex, Recessive 1 Krt14-Related Epidermolysis Bullosa Simplex

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

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa simplex-mp31.9KRT5
2epidermolysis bullosa simplex, dowling-meara type31.9KRT5, KRT14
3epidermolysis bullosa simplex, koebner type31.9KRT5, KRT14
4epidermolysis bullosa simplex, weber-cockayne type31.9KRT5, KRT14
5epidermolysis bullosa simplex with pyloric atresia31.8PLEC
6muscular dystrophy31.7PLEC, KRT14
7epidermolysis bullosa simplex, recessive 131.4KRT14, KRT5
8epidermolysis bullosa31.3ITGB4, DST, PLEC, COL17A1, KRT5, KRT14
9epidermolysis bullosa with pyloric atresia31.2ITGB4
10epidermolytic hyperkeratosis31.2KRT1
11bullous pemphigoid30.8COL17A1, DST
12keratoderma30.8KRT1, KRT14
13junctional epidermolysis bullosa30.1COL17A1, ITGB4, DST
14colorectal cancer29.8ITGB4, KRT14, KRT5
15epidermolysis bullosa acquisita29.6DST, ITGB4, COL17A1
16lung cancer29.6KRT14, KRT5, ITGB4
17breast cancer29.3KRT5, KRT14, ITGB4, DST
18epidermolysis bullosa simplex, ogna type10.8
19muscular dystrophy with epidermolysis bullosa simplex10.8
20epidermylysis bullosa simplex-mcr10.7
21epidermolysis bullosa simplex superficialis10.7
22epidermolysis bullosa simplex with anodontia/hypodontia10.6
23epidermolysis bullosa simplex, sutosomal recessive 210.6
24epidermolysis bullosa simplex due to plakophilin deficiency10.6
25epidermolysis bullosa simplex due to bp230 deficiency10.6
26krt14-related epidermolysis bullosa simplex10.6
27epidermolysa bullosa simplex with muscular dystrophy10.5
28epidermolysis bullosa simplex, other generalized10.5
29epidermolysis bullosa simplex due to exophilin 5 deficiency10.5
30peeling skin syndrome10.4
31melanoma10.4
32blindness10.4
33nasopharyngeal carcinoma10.4
34nasopharyngitis10.4
35ocular cicatricial pemphigoid10.4ITGB4
36epidermolysis bullosa, junctional, with pyloric stenosis10.3
37cicatricial pemphigoid10.3COL17A1
38epidermolysis bullosa, lethal acantholytic10.3
39kindler syndrome10.3
40epidermolysis bullosa dystrophica, ad10.3
41darier disease10.3
42alopecia10.3
43dilated cardiomyopathy10.3
44neuroectodermal tumor10.3
45congenital ichthyosiform erythroderma10.3
46anodontia10.3
47pachyonychia congenita10.3
48supratentorial primitive neuroectodermal tumor10.3
49verrucous carcinoma10.3
50stuttering10.3

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



Diseases related to epidermolysis bullosa simplex

Symptoms for Epidermolysis Bullosa Simplex

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HPO human phenotypes related to Epidermolysis Bullosa Simplex:

(show all 9)
id Description Frequency HPO Source Accession
1 abnormal blistering of the skin hallmark (90%) HP:0008066
2 palmoplantar keratoderma typical (50%) HP:0000982
3 abnormality of skin pigmentation typical (50%) HP:0001000
4 anonychia typical (50%) HP:0001798
5 pyloric stenosis typical (50%) HP:0002021
6 skin ulcer typical (50%) HP:0200042
7 atypical scarring of skin occasional (7.5%) HP:0000987
8 abnormality of the fingernails occasional (7.5%) HP:0001231
9 neoplasm occasional (7.5%) HP:0002664

Drugs & Therapeutics for Epidermolysis Bullosa Simplex

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Drug clinical trials:

Search ClinicalTrials for Epidermolysis Bullosa Simplex

Search NIH Clinical Center for Epidermolysis Bullosa Simplex

Genetic Tests for Epidermolysis Bullosa Simplex

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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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MalaCards organs/tissues related to Epidermolysis Bullosa Simplex:

31
Skin, Testes, Breast, Tongue

Animal Models for Epidermolysis Bullosa Simplex or affiliated genes

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MGI Mouse Phenotypes related to Epidermolysis Bullosa Simplex:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1KRT1, KRT14, DST
2MP:00053818.7DST, ITGB4, KRT14, KRT5
3MP:00053918.5KRT14, ITGB4, BFSP2, DST
4MP:00053768.1KRT1, KRT14, PLEC, ITGB4, DST
5MP:00053877.8ITGB4, PLEC, COL17A1, KRT14, KRT1
6MP:00053787.5DST, PLEC, COL17A1, KRT14, KRT1
7MP:00107717.0KRT5, DST, ITGB4, PLEC, COL17A1, KRT14
8MP:00107687.0DST, ITGB4, PLEC, COL17A1, KRT14, KRT1

Publications for Epidermolysis Bullosa Simplex

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Articles related to Epidermolysis Bullosa Simplex:

(show top 50)    (show all 319)
idTitleAuthorsYear
1
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. (24964947)
2014
2
Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation. (23103015)
2013
3
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. (23289980)
2013
4
New mutations in the PLEC gene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy. (23496806)
2013
5
Coexistence of KRT14 and KRT5 mutations in Polish patient with Epidermolysis Bullosa Simplex. (24024749)
2013
6
Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath. (22277943)
2012
7
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
8
Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stress-induced keratin aggregation: involvement of heat shock proteins and MAP kinases. (21490615)
2011
9
Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. (21716320)
2011
10
Localized epidermolysis bullosa simplex (Weber-Cockayne type). (22206097)
2011
11
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. (21623745)
2011
12
A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex. (19797037)
2010
13
A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell carcinoma of the tongue. (20096008)
2010
14
Plectin gene defects lead to various forms of epidermolysis bullosa simplex. (19945614)
2010
15
Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes. (20128788)
2010
16
Epidermolysis bullosa simplex. (19945613)
2010
17
One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex. (20055872)
2009
18
Case of mistaken identity: bullous congenital ichthyosiform erythroderma mistaken as epidermolysis bullosa simplex. (19930990)
2009
19
Treatment of epidermolysis bullosa simplex, Weber-Cockayne type, with botulinum toxin type A. (19153338)
2009
20
Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation. (17635506)
2007
21
A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara. (17659012)
2007
22
Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with KAPbner-type epidermolysis bullosa simplex. (17040498)
2006
23
Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15982306)
2005
24
Epidermolysis bullosa simplex associated with muscular dystrophy and cardiac involvement. (19078768)
2005
25
Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance. (15556930)
2005
26
The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15030360)
2004
27
Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. (14675180)
2003
28
Epidermolysis bullosa simplex in Israel: clinical and genetic features. (12707098)
2003
29
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. (11851880)
2002
30
Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. (11710919)
2001
31
Crusted scabies in a girl with epidermolysis bullosa simplex. (10819560)
2000
32
The clinical spectrum of epidermolysis bullosa simplex. (10735952)
2000
33
A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case. (10383750)
1999
34
Leukocytoclastic vasculitis in a child with epidermolysis bullosa simplex. (10770671)
1999
35
Tetracycline and epidermolysis bullosa simplex: a new indication for one of the oldest and most widely used drugs in dermatology? (10456349)
1999
36
A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex. (10583131)
1999
37
Successful Breast Conservation in a Patient with Epidermolysis Bullosa Simplex. (11348322)
1999
38
Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy. (10552210)
1999
39
Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote. (9284105)
1997
40
A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. (9129237)
1997
41
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. (8636409)
1996
42
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. (8875963)
1996
43
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. (8941634)
1996
44
Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. (7561171)
1995
45
Epidermolysis bullosa simplex with transient erythema circinatum. (7947213)
1994
46
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. (7688477)
1993
47
Anterior corneal disease of epidermolysis bullosa simplex. (8470983)
1993
48
Cytofluorometric study of lectin binding to the keratinocytes of epidermolysis bullosa simplex. (2127148)
1990
49
Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex. (2471468)
1989
50
Gelatinase expression in generalized epidermolysis bullosa simplex fibroblasts. (3016106)
1986

Variations for Epidermolysis Bullosa Simplex

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Expression for genes affiliated with Epidermolysis Bullosa Simplex

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

Pathways for genes affiliated with Epidermolysis Bullosa Simplex

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Compounds for genes affiliated with Epidermolysis Bullosa Simplex

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Compounds related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

(show all 17)
idCompoundScoreTop Affiliating Genes
1isotretinoin43 1210.8KRT1, KRT14
2hematoxylin439.6KRT1, KRT14
3asparagine439.6KRT5, KRT1
4calcipotriol43 59 28 1212.5KRT5, KRT14, ITGB4
5retinoid439.4KRT5, KRT1, KRT14
6lysine439.3KRT5, KRT1, KRT14
7kalinin439.3KRT5, ITGB4, DST
812-o-tetradecanoylphorbol 13-acetate439.1DST, KRT1, KRT5
9leucine439.0ITGB4, KRT1, KRT5
10progesterone43 28 59 24 1212.9KRT5, KRT1, KRT14
11paraffin438.9KRT5, KRT1, KRT14, DST
12retinoic acid43 249.8ITGB4, KRT14, KRT1, KRT5
13phenylalanine438.7COL17A1, KRT14, KRT1, KRT5
14proline438.7COL17A1, KRT14, KRT1, KRT5
15serine438.1ITGB4, COL17A1, KRT14, KRT1, KRT5
16tyrosine438.1ITGB4, COL17A1, KRT14, KRT1, KRT5
17calcium43 49 24 1210.5DST, ITGB4, COL17A1, KRT14, KRT1, KRT5

GO Terms for genes affiliated with Epidermolysis Bullosa Simplex

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Cellular components related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeletonGO:00451119.4PLEC, DST
2keratin filamentGO:00450959.3KRT5, KRT1, KRT14
3cell leading edgeGO:00312529.2ITGB4, DST
4basal plasma membraneGO:00099259.0ITGB4, DST
5intermediate filamentGO:00058828.9KRT5, KRT14, BFSP2, DST
6basement membraneGO:00056048.7DST, ITGB4, COL17A1
7extracellular vesicular exosomeGO:00700628.4ITGB4, PLEC, KRT14, KRT1, KRT5
8hemidesmosomeGO:00300568.3COL17A1, PLEC, ITGB4, DST
9plasma membraneGO:00058867.4BFSP2, ITGB4, PLEC, COL17A1, KRT1, KRT5

Biological processes related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeleton organizationGO:00451049.5BFSP2, DST
2cell motilityGO:00488709.3DST, ITGB4
3response to woundingGO:00096119.2ITGB4, DST
4cell-matrix adhesionGO:00071609.1COL17A1, ITGB4
5epidermis developmentGO:00085449.0KRT5, KRT14, COL17A1
6integrin-mediated signaling pathwayGO:00072299.0ITGB4, DST
7extracellular matrix organizationGO:00301988.2DST, ITGB4, PLEC, COL17A1
8cell junction assemblyGO:00343298.2ITGB4, PLEC, COL17A1, KRT14, KRT5
9hemidesmosome assemblyGO:00315817.6KRT5, KRT14, COL17A1, PLEC, ITGB4, DST

Molecular functions related to Epidermolysis Bullosa Simplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.0KRT5, KRT14, BFSP2
2protein bindingGO:00055156.9ITGB4, PLEC, COL17A1, KRT14, KRT1, KRT5

Products for genes affiliated with Epidermolysis Bullosa Simplex

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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet