MCID: EPD016
MIFTS: 56

Epidermolysis Bullosa malady

Rare diseases, Skin diseases categories
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Summaries for Epidermolysis Bullosa

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43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. erosions and blisters form in response to minor injury or friction, such as rubbing or scratching. there are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa epidermolysis bullosa simplex junctional epidermolysis bullosa kindler syndromeidentifying the exact type is difficult because there are many subtypes for this condition. most types of epidermolysis bullosa are inherited. the inheritance pattern may be dominant or recessive.   last updated: 9/7/2011

MalaCards: Epidermolysis Bullosa, also known as acantholysis bullosa, is related to epidermolysis bullosa acquisita and epidermolysis bullosa simplex. An important gene associated with Epidermolysis Bullosa is KRT14 (keratin 14), and among its related pathways are Glucocorticoid receptor regulatory network and Adhesion. The drugs phenytoin and phenytoin sodium and the compounds calcipotriol and proline have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and testes, and related mouse phenotypes are respiratory system and immune system.

Wikipedia:65 Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and... more...

Aliases & Classifications for Epidermolysis Bullosa

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH
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Classifications:

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


Aliases & Descriptions:

epidermolysis bullosa 8 43 10 45 62
acantholysis bullosa 8


External Ids:

Disease Ontology8 DOID:2730
NCIt40 C67383
SNOMED-CT58 205580008, 61003004
MeSH35 D004820

Related Diseases for Epidermolysis Bullosa

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17GeneCards, 18GeneDecks
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Diseases related to Epidermolysis Bullosa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 227)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa acquisita32.0LAMA3, LAMC2, COL17A1, ITGB4
2epidermolysis bullosa simplex32.0KRT5, KRT14, COL17A1, PLEC, ITGB4
3junctional epidermolysis bullosa31.9LAMA3, LAMB3, LAMC2, COL17A1
4epidermolysis bullosa with pyloric atresia31.6ITGB4
5bullous pemphigoid31.5COL17A1, COL7A1
6junctional epidermolysis bullosa, non-herlitz type31.4COL17A1, LAMB3
7epidermolysis bullosa simplex, generalized31.3KRT14, KRT5
8muscular dystrophy31.3PLEC, KRT14
9epidermolysis bullosa simplex, dowling-meara type31.3KRT5, KRT14
10junctional epidermolysis bullosa, herlitz type31.2LAMA3, LAMB3, LAMC2
11epidermolysis bullosa simplex, localized31.2KRT5, KRT14
12cicatricial pemphigoid31.1COL17A1, COL7A1
13epidermolysis bullosa simplex-mp31.0KRT5
14epidermolysis bullosa simplex with pyloric atresia30.9PLEC
15kindler syndrome30.9ITGB4, COL7A1
16epidermolysis bullosa simplex, recessive 130.8KRT5, KRT14
17lichen planus30.4COL17A1, LAMC2
18skin disease30.3COL17A1, KRT14
19basal cell carcinoma30.2ITGB4, COL17A1, LAMC2
20recessive dystrophic epidermolysis bullosa11.3
21epidermolysis bullosa dystrophica11.2
22dominant dystrophic epidermolysis bullosa11.0
23epidermolysis bullosa pruriginosa11.0
24esophagitis10.9
25epidermolysis bullosa simplex with mottled pigmentation10.9
26epidermolysis bullosa simplex with muscular dystrophy10.8
27generalized dominant dystrophic epidermolysis bullosa10.7
28severe generalized recessive dystrophic epidermolysis bullosa10.7
29epidermolysis bullosa dystrophica, ar10.7
30lupus erythematosus10.6
31epidermolysis bullosa dystrophica, ad10.6
32amyloidosis10.6
33epidermolysis bullosa simplex, ogna type10.6
34epidermolysis bullosa, lethal acantholytic10.6
35crohn's disease10.6
36aplasia cutis congenita10.6
37epidermolysis bullosa, pretibial10.6
38recessive dystrophic epidermolysis bullosa, generalized, other10.6
39epidermolysis bullosa simplex superficialis10.6
40systemic lupus erythematosus10.5
41epidermolysis bullosa, junctional, with pyloric stenosis10.5
42epidermolysis bullosa simplex with anodontia/hypodontia10.5
43laryngitis10.5
44junctional epidermolysis bullosa inversa10.5
45centripetalis recessive dystrophic epidermolysis bullosa10.5
46dermatitis10.5
47dilated cardiomyopathy10.5
48epidermolysis bullosa simplex, sutosomal recessive 210.5
49late-onset localized junctional epidermolysis bullosa - intellectual disability10.5
50late-onset junctional epidermolysis bullosa10.5

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



Diseases related to epidermolysis bullosa

Symptoms for Epidermolysis Bullosa

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Drugs & Therapeutics for Epidermolysis Bullosa

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Epidermolysis Bullosa

Search NIH Clinical Center for Epidermolysis Bullosa

Inferred drug relations via UMLS62/NDF-RT41:

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Genetic Tests for Epidermolysis Bullosa

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Anatomical Context for Epidermolysis Bullosa

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33MalaCards
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MalaCards organs/tissues related to Epidermolysis Bullosa:

33
Skin, Bone, Testes, Bone marrow, Colon, Lymph node, Breast, B cells, T cells, Trachea, Thyroid, Lung, Heart, Tongue, Kidney, Eye, Pons

Animal Models for Epidermolysis Bullosa or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Epidermolysis Bullosa:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.5LAMB3, LAMC2, ITGB4, KRT14
2MP:00053878.3KRT14, COL17A1, PLEC, ITGB4, LAMC2
3MP:00053827.4LAMA3, LAMB3, LAMC2, ITGB4, COL7A1, KRT14
4MP:00053817.3LAMA3, LAMB3, LAMC2, ITGB4, COL7A1, KRT14
5MP:00107716.4KRT5, LAMA3, LAMB3, LAMC2, ITGB4, PLEC
6MP:00107686.2LAMA3, LAMB3, LAMC2, ITGB4, PLEC, COL7A1

Publications for Epidermolysis Bullosa

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52PubMed
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Articles related to Epidermolysis Bullosa:

(show top 50)    (show all 1802)
idTitleAuthorsYear
1
Dystrophic Epidermolysis Bullosa Associated with Amniotic Band Syndrome. (24383893)
2014
2
Hand Surgery for Dystrophic Epidermolysis Bullosa. (24390599)
2014
3
Late-onset pretibial recessive dystrophic epidermolysis bullosa. (23786535)
2013
4
Primary amenorrhoea due to a rare cause: epidermolysis bullosa causing haematometra. (23283611)
2013
5
Metabolite analysis distinguishes between mice with epidermolysis bullosa acquisita and healthy mice. (23800341)
2013
6
Clinical presentation, pathogenesis, diagnosis, and treatment of epidermolysis bullosa acquisita. (23956869)
2013
7
Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation. (23103015)
2013
8
Epidermolysis bullosa acquisita and inflammatory bowel disease: a review of the literature. (23517353)
2013
9
Squamous cell carcinoma as a complication of epidermolysis bullosa. (22964184)
2012
10
Application of the procedural consolidation concept to surgical treatment of children with epidermolysis bullosa: a retrospective analysis. (21853547)
2011
11
Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stress-induced keratin aggregation: involvement of heat shock proteins and MAP kinases. (21490615)
2011
12
Anesthesia for balloon dilatation of esophageal strictures in children with epidermolysis bullosa dystrophica: from intubation to sedation. (20543680)
2010
13
Interdisciplinary management of epidermolysis bullosa in the public setting: the Netherlands as a model of care. (20447507)
2010
14
Epidermolysis bullosa pruriginosa in association with lichen planopilaris. (20055845)
2009
15
One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex. (20055872)
2009
16
Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia. (18563182)
2008
17
Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas. (18284387)
2008
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
The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15030360)
2004
20
Granulocyte-derived elastase and gelatinase B are required for dermal-epidermal separation induced by autoantibodies from patients with epidermolysis bullosa acquisita and bullous pemphigoid. (15538734)
2004
21
Apligraf in the treatment of severe mitten deformity associated with recessive dystrophic epidermolysis bullosa. (12900618)
2003
22
Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome? (14673268)
2003
23
Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. (14675180)
2003
24
Junctional epidermolysis bullosa with pyloric stenosis. (11841649)
2001
25
Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa. (10951252)
2000
26
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
27
Leukocytoclastic vasculitis in a child with epidermolysis bullosa simplex. (10770671)
1999
28
Treatment of epidermolysis bullosa acquisita with mycophenolate mofetil and autologous keratinocyte grafting. (10583185)
1999
29
Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa. (10383751)
1999
30
DNA-based prenatal diagnosis in epidermolysis bullosa]. (9451906)
1998
31
180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype. (9666835)
1998
32
Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia. (9930337)
1998
33
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. (9501007)
1998
34
Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. (9242516)
1997
35
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. (8636409)
1996
36
A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa. (8618004)
1996
37
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. (8875963)
1996
38
Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. (7561171)
1995
39
Spontaneous disappearance of intraepidermal type VII collagen in a patient with dystrophic epidermolysis bullosa. (7577595)
1995
40
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. (7550320)
1995
41
Esophageal perforation in recessive dystrophic epidermolysis bullosa. (8166505)
1994
42
Role of elevated alpha-fetoprotein in prenatal diagnosis of junctional epidermolysis bullosa and pyloric atresia. (7524513)
1994
43
Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. (8063286)
1994
44
Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds. (1358979)
1992
45
Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study. (1474191)
1992
46
Treatment of chronic erosions of junctional epidermolysis bullosa with human epidermal allografts. (1607462)
1992
47
Management of oesophageal stenosis in epidermolysis bullosa dystrophica. (2751329)
1989
48
Acidic glycosaminoglycans in cultured skin fibroblasts of a patient with epidermolysis bullosa acquisita. (7404577)
1980
49
Vitamin E treatment of epidermolysis bullosa acquisita. (1022216)
1976
50
Letter: Esophageal epidermolysis bullosa dystrophica? (803809)
1975

Variations for Epidermolysis Bullosa

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Expression for genes affiliated with Epidermolysis Bullosa

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epidermolysis Bullosa

Search GEO for disease gene expression data for Epidermolysis Bullosa.

Pathways for genes affiliated with Epidermolysis Bullosa

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50PathCards, 38NCBI BioSystems Database, 5Cell Signaling Technology, 30KEGG, 60Thomson Reuters, 12EMD Millipore, 53QIAGEN, 55Reactome
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Pathways related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8KRT14, KRT5
29.6ITGB4, PLEC
39.5COL17A1, COL7A1
49.4KRT14, PLEC, KRT5
59.4COL17A1, ITGB4
69.2ITGB4, LAMA3
78.8LAMB3, LAMC2, LAMA3
88.8LAMB3, LAMA3, LAMC2
98.8LAMB3, LAMA3, LAMC2
10
Show member pathways
8.8LAMB3, LAMA3, LAMC2
11
Show member pathways
8.8LAMC2, LAMA3, LAMB3
12
Show member pathways
8.3LAMB3, LAMA3, LAMC2, ITGB4
13
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
8.3LAMB3, LAMA3, ITGB4, LAMC2
14
Show member pathways
Proteogylcan syndecan-mediated signaling events38
8.3ITGB4, LAMA3, LAMB3, LAMC2
158.3LAMC2, ITGB4, LAMB3, LAMA3
16
Show member pathways
7.4LAMB3, ITGB4, LAMC2, COL7A1, LAMA3, COL17A1
17
Show member pathways
7.4LAMB3, ITGB4, COL17A1, LAMC2, LAMA3, COL7A1
18
Show member pathways
7.4COL7A1, COL17A1, ITGB4, LAMC2, LAMB3, LAMA3
19
Show member pathways
7.3LAMA3, LAMC2, ITGB4, COL17A1, PLEC, LAMB3
20
Show member pathways
7.3COL17A1, PLEC, ITGB4, LAMC2, LAMB3, LAMA3
21
Show member pathways
6.9COL17A1, LAMA3, LAMB3, LAMC2, ITGB4, PLEC
22
Show member pathways
6.9LAMB3, LAMA3, COL17A1, COL7A1, PLEC, ITGB4

Compounds for genes affiliated with Epidermolysis Bullosa

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45Novoseek, 61Tocris Bioscience, 29IUPHAR, 11DrugBank
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Compounds related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcipotriol45 61 29 1112.4KRT5, KRT14, ITGB4
2proline459.2KRT5, KRT14, COL17A1
3phenylalanine459.1COL17A1, KRT14, KRT5
4serine458.1KRT5, KRT14, COL17A1, COL7A1, ITGB4
5kalinin458.0KRT5, ITGB4, LAMC2, LAMB3, LAMA3

GO Terms for genes affiliated with Epidermolysis Bullosa

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16Gene Ontology
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Cellular components related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:0450959.8KRT5, KRT14
2intermediate filamentGO:0058829.2BFSP2, KRT14, KRT5
3hemidesmosomeGO:0300569.1ITGB4, PLEC, COL17A1
4laminin-5 complexGO:0056108.9LAMC2, LAMB3, LAMA3
5basement membraneGO:0056048.3COL17A1, COL7A1, ITGB4, LAMA3
6extracellular regionGO:0055767.5COL17A1, COL7A1, LAMC2, LAMB3, LAMA3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:0305749.5COL17A1, COL7A1
2cell-matrix adhesionGO:0071609.1COL17A1, ITGB4
3cell adhesionGO:0071557.9LAMA3, LAMB3, LAMC2, ITGB4, COL7A1
4extracellular matrix disassemblyGO:0226177.8LAMA3, LAMB3, LAMC2, COL7A1, COL17A1
5epidermis developmentGO:0085447.3LAMA3, KRT5, KRT14, COL17A1, COL7A1, LAMC2
6extracellular matrix organizationGO:0301987.0LAMA3, LAMB3, LAMC2, ITGB4, PLEC, COL7A1
7cell junction assemblyGO:0343296.8LAMC2, LAMB3, LAMA3, ITGB4, PLEC, COL17A1
8hemidesmosome assemblyGO:0315816.7KRT5, KRT14, COL17A1, PLEC, ITGB4, LAMC2

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.0KRT5, KRT14, BFSP2
2protein bindingGO:0055157.5ITGB4, PLEC, COL7A1, COL17A1, KRT14, KRT5

Products for genes affiliated with Epidermolysis Bullosa

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Sources for Epidermolysis Bullosa

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet