EB
MCID: EPD016
MIFTS: 58

Epidermolysis Bullosa (EB) malady

Rare diseases, Skin diseases categories
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Summaries for Epidermolysis Bullosa

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NIH Rare Diseases:42 Epidermolysis bullosa (eb) is a group of genetic skin diseases that cause the skin to blister very easily. blisters form in response to minor injuries 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 syndrome identifying the exact type can be hard because there are many subtypes of eb. within each type or subtype, a person may be mildly or severely affected. the disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. most types of eb are inherited. the inheritance pattern may be autosomal dominant or autosomal recessive. management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. last updated: 10/14/2014

MalaCards based summary: Epidermolysis Bullosa, also known as acantholysis bullosa, is related to epidermolysis bullosa with pyloric atresia and bullous pemphigoid. 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, testes and bone, 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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Epidermolysis Bullosa, Aliases & Descriptions:

Name: Epidermolysis Bullosa 8 42 10 44 62
Acantholysis Bullosa 8
 
Eb 42


Classifications:

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


External Ids:

Disease Ontology8 DOID:2730
MeSH34 D004820
SNOMED-CT57 205580008, 61003004
NCIt39 C67383

Related Diseases for Epidermolysis Bullosa

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

(show top 50)    (show all 244)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa with pyloric atresia32.1ITGB4
2bullous pemphigoid31.8COL17A1, COL7A1
3epidermolysis bullosa simplex, generalized31.7KRT5, KRT14
4epidermolysis bullosa simplex, dowling-meara type31.7KRT5, KRT14
5epidermolysis bullosa simplex31.7PLEC, COL17A1, KRT14, KRT5, ITGB4
6epidermolysis bullosa simplex, localized31.7KRT5, KRT14
7epidermolysis bullosa acquisita31.6LAMA3, LAMC2, ITGB4, COL17A1
8junctional epidermolysis bullosa, non-herlitz type31.5COL17A1, LAMB3
9junctional epidermolysis bullosa31.5COL17A1, LAMA3, LAMB3, LAMC2
10epidermolysis bullosa simplex-mp31.5KRT5
11epidermolysis bullosa simplex with pyloric atresia31.5PLEC
12muscular dystrophy31.5PLEC, KRT14
13epidermolysis bullosa simplex, recessive 131.3KRT14, KRT5
14kindler syndrome31.2ITGB4, COL7A1
15junctional epidermolysis bullosa, herlitz type31.2LAMA3, LAMB3, LAMC2
16mucous membrane pemphigoid31.0COL17A1, COL7A1
17lichen planus30.6COL17A1, LAMC2
18skin disease30.5KRT14, COL17A1
19basal cell carcinoma30.1COL17A1, ITGB4, LAMC2
20colorectal cancer29.8LAMC2, ITGB4, KRT14, KRT5
21lung cancer29.5LAMB3, LAMC2, ITGB4, KRT14, KRT5
22recessive dystrophic epidermolysis bullosa11.4
23epidermolysis bullosa dystrophica11.2
24dominant dystrophic epidermolysis bullosa11.1
25epidermolysis bullosa pruriginosa11.0
26esophagitis10.9
27epidermolysis bullosa simplex with mottled pigmentation10.9
28epidermolysis bullosa simplex with muscular dystrophy10.8
29generalized dominant dystrophic epidermolysis bullosa10.8
30severe generalized recessive dystrophic epidermolysis bullosa10.7
31cicatricial pemphigoid10.7
32epidermolysis bullosa dystrophica, ar10.7
33lupus erythematosus10.7
34epidermolysis bullosa dystrophica, ad10.7
35amyloidosis10.6
36epidermolysis bullosa simplex, ogna type10.6
37epidermolysis bullosa, lethal acantholytic10.6
38crohn's disease10.6
39aplasia cutis congenita10.6
40epidermolysis bullosa, pretibial10.6
41systemic lupus erythematosus10.6
42recessive dystrophic epidermolysis bullosa, generalized, other10.6
43epidermolysis bullosa simplex superficialis10.6
44epidermolysis bullosa simplex with anodontia/hypodontia10.6
45laryngitis10.5
46junctional epidermolysis bullosa inversa10.5
47epidermolysis bullosa, junctional, with pyloric stenosis10.5
48centripetalis recessive dystrophic epidermolysis bullosa10.5
49dilated cardiomyopathy10.5
50dermatitis10.5

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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Drug clinical trials:

Search ClinicalTrials for Epidermolysis Bullosa

Search NIH Clinical Center for Epidermolysis Bullosa

Inferred drug relations via UMLS62/NDF-RT40:

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Genetic Tests for Epidermolysis Bullosa

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Anatomical Context for Epidermolysis Bullosa

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MalaCards organs/tissues related to Epidermolysis Bullosa:

32
Skin, Testes, Bone, Bone marrow, Colon, Lymph node, Breast, T cells, B cells, Eye, Heart, Kidney, Lung, Thyroid, Pons, Tongue, Trachea, Neutrophil

Animal Models for Epidermolysis Bullosa or affiliated genes

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MGI Mouse Phenotypes related to Epidermolysis Bullosa:

36
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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Articles related to Epidermolysis Bullosa:

(show top 50)    (show all 1867)
idTitleAuthorsYear
1
Dystrophic Epidermolysis Bullosa Associated with Amniotic Band Syndrome. (24383893)
2014
2
Hand Surgery for Dystrophic Epidermolysis Bullosa. (24390599)
2014
3
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. (24964947)
2014
4
Late-onset pretibial recessive dystrophic epidermolysis bullosa. (23786535)
2013
5
Primary amenorrhoea due to a rare cause: epidermolysis bullosa causing haematometra. (23283611)
2013
6
Metabolite analysis distinguishes between mice with epidermolysis bullosa acquisita and healthy mice. (23800341)
2013
7
Clinical presentation, pathogenesis, diagnosis, and treatment of epidermolysis bullosa acquisita. (23956869)
2013
8
Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation. (23103015)
2013
9
Epidermolysis bullosa acquisita and inflammatory bowel disease: a review of the literature. (23517353)
2013
10
Squamous cell carcinoma as a complication of epidermolysis bullosa. (22964184)
2012
11
Application of the procedural consolidation concept to surgical treatment of children with epidermolysis bullosa: a retrospective analysis. (21853547)
2011
12
Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stress-induced keratin aggregation: involvement of heat shock proteins and MAP kinases. (21490615)
2011
13
Implant-supported fixed dental prostheses in an edentulous patient with dystrophic epidermolysis bullosa. (20234891)
2010
14
Anesthesia for balloon dilatation of esophageal strictures in children with epidermolysis bullosa dystrophica: from intubation to sedation. (20543680)
2010
15
A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex. (19797037)
2010
16
Interdisciplinary management of epidermolysis bullosa in the public setting: the Netherlands as a model of care. (20447507)
2010
17
Epidermolysis bullosa pruriginosa in association with lichen planopilaris. (20055845)
2009
18
Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia. (18563182)
2008
19
Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas. (18284387)
2008
20
Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15982306)
2005
21
The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15030360)
2004
22
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
23
Apligraf in the treatment of severe mitten deformity associated with recessive dystrophic epidermolysis bullosa. (12900618)
2003
24
Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome? (14673268)
2003
25
Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. (14675180)
2003
26
Junctional epidermolysis bullosa with pyloric stenosis. (11841649)
2001
27
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
28
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
29
Leukocytoclastic vasculitis in a child with epidermolysis bullosa simplex. (10770671)
1999
30
Treatment of epidermolysis bullosa acquisita with mycophenolate mofetil and autologous keratinocyte grafting. (10583185)
1999
31
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
32
DNA-based prenatal diagnosis in epidermolysis bullosa]. (9451906)
1998
33
180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype. (9666835)
1998
34
Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia. (9930337)
1998
35
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. (9501007)
1998
36
Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. (9242516)
1997
37
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. (8636409)
1996
38
A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa. (8618004)
1996
39
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. (8875963)
1996
40
Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. (7561171)
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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Expression patterns in normal tissues for genes affiliated with Epidermolysis Bullosa

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Pathways for genes affiliated with Epidermolysis Bullosa

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Pathways related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8KRT5, KRT14
29.6ITGB4, PLEC
39.5COL17A1, COL7A1
49.4KRT5, KRT14, PLEC
59.4COL17A1, ITGB4
69.2LAMA3, ITGB4
7
Show member pathways
8.8LAMA3, LAMB3, LAMC2
8
Show member pathways
8.8LAMA3, LAMB3, LAMC2
98.8LAMC2, LAMB3, LAMA3
108.8LAMC2, LAMB3, LAMA3
118.8LAMC2, LAMB3, LAMA3
12
Show member pathways
8.3LAMA3, LAMB3, LAMC2, ITGB4
13
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
8.3LAMA3, LAMB3, LAMC2, ITGB4
148.3LAMA3, LAMB3, LAMC2, ITGB4
15
Show member pathways
Proteogylcan syndecan-mediated signaling events37
8.3LAMA3, LAMB3, LAMC2, ITGB4
16
Show member pathways
7.4LAMA3, LAMB3, LAMC2, ITGB4, COL7A1, COL17A1
17
Show member pathways
7.4LAMA3, LAMB3, LAMC2, ITGB4, COL7A1, COL17A1
18
Show member pathways
7.4LAMA3, LAMB3, LAMC2, ITGB4, COL7A1, COL17A1
19
Show member pathways
7.3LAMA3, LAMB3, LAMC2, ITGB4, PLEC, COL17A1
20
Show member pathways
7.3LAMA3, LAMB3, LAMC2, ITGB4, PLEC, COL17A1
21
Show member pathways
6.9COL17A1, LAMA3, LAMB3, LAMC2, ITGB4, PLEC
22
Show member pathways
6.9LAMA3, LAMB3, LAMC2, ITGB4, PLEC, COL7A1

Compounds for genes affiliated with Epidermolysis Bullosa

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Compounds related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcipotriol44 61 28 1112.4KRT5, KRT14, ITGB4
2proline449.2KRT5, KRT14, COL17A1
3phenylalanine449.1COL17A1, KRT14, KRT5
4serine448.1KRT5, KRT14, COL17A1, COL7A1, ITGB4
5kalinin448.0KRT5, ITGB4, LAMC2, LAMB3, LAMA3

GO Terms for genes affiliated with Epidermolysis Bullosa

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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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3CDC
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25ICD10
26ICD10 via Orphanet
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28IUPHAR
29KEGG
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36MGI
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47OMIM via Orphanet
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58SNOMED-CT via Orphanet
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63UMLS via Orphanet