MCID: EPD016
MIFTS: 49

Epidermolysis Bullosa malady

Rare diseases, Skin diseases categories

Aliases & Classifications for Epidermolysis Bullosa

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Epidermolysis Bullosa, Aliases & Descriptions:

Name: Epidermolysis Bullosa 9 41 11 43 60
Acantholysis Bullosa 9
 
Eb 41


Classifications:

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


External Ids:

Disease Ontology9 DOID:2730
MeSH33 D004820
SNOMED-CT55 61003004, 205580008
NCIt38 C67383
ICD1025 Q81

Summaries for Epidermolysis Bullosa

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NIH Rare Diseases:41 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, bone and testes, and related mouse phenotypes are respiratory system and immune system.

Wikipedia:63 Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and... more...

Related Diseases for Epidermolysis Bullosa

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

(show top 50)    (show all 239)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa with pyloric atresia32.1ITGB4
2bullous pemphigoid31.8COL17A1, COL7A1
3epidermolysis bullosa simplex-mp31.8KRT5
4epidermolysis bullosa simplex, dowling-meara type31.7KRT5, KRT14
5epidermolysis bullosa simplex, koebner type31.7KRT5, KRT14
6epidermolysis bullosa simplex, weber-cockayne type31.7KRT5, KRT14
7epidermolysis bullosa simplex31.7PLEC, COL17A1, KRT14, KRT5, ITGB4
8epidermolysis bullosa acquisita31.6LAMA3, LAMC2, ITGB4, COL17A1
9epidermolysis bullosa simplex with pyloric atresia31.6PLEC
10epidermolysis bullosa, junctional, non-herlitz type31.6COL17A1, LAMB3
11junctional epidermolysis bullosa31.5COL17A1, LAMA3, LAMB3, LAMC2
12muscular dystrophy31.5PLEC, KRT14
13cicatricial pemphigoid31.4COL17A1, COL7A1
14epidermolysis bullosa simplex, recessive 131.2KRT14, KRT5
15kindler syndrome31.2ITGB4, COL7A1
16epidermolysis bullosa, junctional, herlitz type31.1LAMA3, LAMB3, LAMC2
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 pruriginosa11.1
26esophagitis10.9
27generalized dominant dystrophic epidermolysis bullosa10.9
28severe generalized recessive dystrophic epidermolysis bullosa10.9
29epidermolysis bullosa, lethal acantholytic10.7
30epidermolysis bullosa, pretibial10.7
31muscular dystrophy with epidermolysis bullosa simplex10.7
32lupus erythematosus10.7
33epidermolysis bullosa simplex, ogna type10.7
34epidermolysis bullosa dystrophica, ad10.6
35amyloidosis10.6
36junctional epidermolysis bullosa inversa10.6
37crohn's disease10.6
38aplasia cutis congenita10.6
39recessive dystrophic epidermolysis bullosa, generalized, other10.6
40systemic lupus erythematosus10.6
41epidermolysis bullosa, junctional, with pyloric stenosis10.6
42epidermylysis bullosa simplex-mcr10.6
43epidermolysis bullosa simplex superficialis10.6
44interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital10.6
45epidermolysis bullosa dystrophica, ar10.6
46laryngitis10.6
47centripetalis recessive dystrophic epidermolysis bullosa10.6
48epidermolysis bullosa simplex with anodontia/hypodontia10.5
49late-onset junctional epidermolysis bullosa10.5
50dilated cardiomyopathy10.5

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 UMLS60/NDF-RT39:

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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:

31
Skin, Bone, Testes, Bone marrow, Colon, Lymph node, Breast, T cells, B cells, Neutrophil, Eye, Heart, Kidney, Lung, Thyroid, Placenta, Pons, Tongue, Trachea

Animal Models for Epidermolysis Bullosa or affiliated genes

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MGI Mouse Phenotypes related to Epidermolysis Bullosa:

35
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 1901)
idTitleAuthorsYear
1
Junctional Epidermolysis Bullosa with LAMB3 Splice-site Mutations. (25708563)
2015
2
Epidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation. (25690953)
2015
3
Dystrophic Epidermolysis Bullosa Associated with Amniotic Band Syndrome. (24383893)
2014
4
Hand Surgery for Dystrophic Epidermolysis Bullosa. (24390599)
2014
5
Epidermolysis bullosa simplex with mottled pigmentation: the first Slovenian case. (24964947)
2014
6
Late-onset pretibial recessive dystrophic epidermolysis bullosa. (23786535)
2013
7
Primary amenorrhoea due to a rare cause: epidermolysis bullosa causing haematometra. (23283611)
2013
8
Metabolite analysis distinguishes between mice with epidermolysis bullosa acquisita and healthy mice. (23800341)
2013
9
Clinical presentation, pathogenesis, diagnosis, and treatment of epidermolysis bullosa acquisita. (23956869)
2013
10
Gene expression analysis of epidermolysis bullosa simplex with mottled pigmentation. (23103015)
2013
11
Epidermolysis bullosa acquisita and inflammatory bowel disease: a review of the literature. (23517353)
2013
12
Squamous cell carcinoma as a complication of epidermolysis bullosa. (22964184)
2012
13
Application of the procedural consolidation concept to surgical treatment of children with epidermolysis bullosa: a retrospective analysis. (21853547)
2011
14
Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stress-induced keratin aggregation: involvement of heat shock proteins and MAP kinases. (21490615)
2011
15
Implant-supported fixed dental prostheses in an edentulous patient with dystrophic epidermolysis bullosa. (20234891)
2010
16
Anesthesia for balloon dilatation of esophageal strictures in children with epidermolysis bullosa dystrophica: from intubation to sedation. (20543680)
2010
17
A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex. (19797037)
2010
18
Interdisciplinary management of epidermolysis bullosa in the public setting: the Netherlands as a model of care. (20447507)
2010
19
Epidermolysis bullosa pruriginosa in association with lichen planopilaris. (20055845)
2009
20
Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia. (18563182)
2008
21
Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas. (18284387)
2008
22
Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15982306)
2005
23
The P25L mutation in the KRT5 gene in a Japanese family with epidermolysis bullosa simplex with mottled pigmentation. (15030360)
2004
24
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
25
Familial epidermolysis bullosa with aplasia cutis congenita: Bart's syndrome? (14673268)
2003
26
Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. (14675180)
2003
27
Junctional epidermolysis bullosa with pyloric stenosis. (11841649)
2001
28
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
29
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
30
Leukocytoclastic vasculitis in a child with epidermolysis bullosa simplex. (10770671)
1999
31
Treatment of epidermolysis bullosa acquisita with mycophenolate mofetil and autologous keratinocyte grafting. (10583185)
1999
32
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
33
DNA-based prenatal diagnosis in epidermolysis bullosa]. (9451906)
1998
34
180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype. (9666835)
1998
35
Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia. (9930337)
1998
36
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. (9501007)
1998
37
Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. (9242516)
1997
38
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. (8636409)
1996
39
A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa. (8618004)
1996
40
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. (8875963)
1996
41
Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. (7561171)
1995
42
Spontaneous disappearance of intraepidermal type VII collagen in a patient with dystrophic epidermolysis bullosa. (7577595)
1995
43
Esophageal perforation in recessive dystrophic epidermolysis bullosa. (8166505)
1994
44
Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. (8063286)
1994
45
Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds. (1358979)
1992
46
Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study. (1474191)
1992
47
Treatment of chronic erosions of junctional epidermolysis bullosa with human epidermal allografts. (1607462)
1992
48
Management of oesophageal stenosis in epidermolysis bullosa dystrophica. (2751329)
1989
49
Acidic glycosaminoglycans in cultured skin fibroblasts of a patient with epidermolysis bullosa acquisita. (7404577)
1980
50
Vitamin E treatment of epidermolysis bullosa acquisita. (1022216)
1976

Variations for Epidermolysis Bullosa

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Expression for genes affiliated with Epidermolysis Bullosa

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Search GEO for disease gene expression data for Epidermolysis Bullosa.

Pathways for genes affiliated with Epidermolysis Bullosa

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Pathways related to Epidermolysis Bullosa according to GeneCards Suite gene sharing:

(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
Metalloproteases in connective tissue degradation
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 adhesion36
Focal Adhesion36
8.3LAMA3, LAMB3, LAMC2, ITGB4
148.3LAMA3, LAMB3, LAMC2, ITGB4
15
Show member pathways
Proteogylcan syndecan-mediated signaling events36
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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1calcipotriol43 59 28 1212.4KRT5, KRT14, ITGB4
2proline439.2KRT5, KRT14, COL17A1
3phenylalanine439.1COL17A1, KRT14, KRT5
4serine438.1KRT5, KRT14, COL17A1, COL7A1, ITGB4
5kalinin438.0KRT5, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:00450959.8KRT5, KRT14
2intermediate filamentGO:00058829.2BFSP2, KRT14, KRT5
3hemidesmosomeGO:00300569.1ITGB4, PLEC, COL17A1
4laminin-5 complexGO:00056108.9LAMC2, LAMB3, LAMA3
5basement membraneGO:00056048.3COL17A1, COL7A1, ITGB4, LAMA3
6extracellular regionGO:00055767.5COL17A1, COL7A1, LAMC2, LAMB3, LAMA3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305749.5COL17A1, COL7A1
2cell-matrix adhesionGO:00071609.1COL17A1, ITGB4
3cell adhesionGO:00071557.9LAMA3, LAMB3, LAMC2, ITGB4, COL7A1
4extracellular matrix disassemblyGO:00226177.8LAMA3, LAMB3, LAMC2, COL7A1, COL17A1
5epidermis developmentGO:00085447.3LAMA3, KRT5, KRT14, COL17A1, COL7A1, LAMC2
6extracellular matrix organizationGO:00301987.0LAMA3, LAMB3, LAMC2, ITGB4, PLEC, COL7A1
7cell junction assemblyGO:00343296.8LAMC2, LAMB3, LAMA3, ITGB4, PLEC, COL17A1
8hemidesmosome assemblyGO:00315816.7KRT5, KRT14, COL17A1, PLEC, ITGB4, LAMC2

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.0KRT5, KRT14, BFSP2
2protein bindingGO:00055157.5ITGB4, 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
13ExPASy
14FMA
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
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46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet