MCID: EPD016
MIFTS: 59

Epidermolysis Bullosa malady

Skin diseases category

Summaries for Epidermolysis Bullosa

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 Anchoring fibril formation. The drugs phenytoin and phenytoin sodium and the compounds kalinin and calcipotriol have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and bone, and related mouse phenotypes are integument and mortality/aging.

Wikipedia:63 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, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt
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Classifications:

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


Aliases & Descriptions:

epidermolysis bullosa 8 42 10 44 60
acantholysis bullosa 8


External Ids:

Disease Ontology8 DOID:2730
MeSH34 D004820
SNOMED-CT56 61003004, 205580008
NCIt39 C67383

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 230)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa acquisita32.0ITGB4, COL17A1, DST, LAD1, LAMA3, LAMC2
2epidermolysis bullosa simplex32.0COL17A1, KRT14, KRT1, KRT5, PLEC, DST
3junctional epidermolysis bullosa32.0LAMC2, LAMB3, LAMA3, DST, ITGA6, ITGB4
4epidermolysis bullosa dystrophica31.8MMP1, FLG, COL7A1
5epidermolysis bullosa with pyloric atresia31.5ITGA6, ITGB4
6squamous cell carcinoma31.4FLG, ITGA6, ITGB4, COL17A1, COL7A1, IVL
7bullous pemphigoid31.4DST, ITGA6, COL17A1, COL7A1
8junctional epidermolysis bullosa, non-herlitz type31.2COL17A1, ITGB4, LAMB3
9junctional epidermolysis bullosa, herlitz type31.1LAMA3, LAMB3, LAMC2
10epidermolysis bullosa simplex, generalized31.1KRT5, KRT14
11epidermolysis bullosa simplex, localized31.0KRT5, KRT14
12epidermolysis bullosa simplex, dowling-meara type31.0KRT5, KRT14
13cicatricial pemphigoid31.0LAMC2, LAMA3, LAD1, DST, ITGA6, ITGB4
14epidermolysis bullosa pruriginosa30.8COL7A1
15epidermolysis bullosa simplex with mottled pigmentation30.8KRT5
16epidermolysis bullosa simplex with pyloric atresia30.7ITGA6, ITGB4
17dermatitis30.6IVL, FLG
18epidermolytic hyperkeratosis30.5FLG, KRT5, KRT1
19psoriasis30.5FLG, IVL, DST, KRT5, KRT1, KRT14
20skin disease30.5COL17A1, KRT14
21kindler syndrome30.5ITGB4, COL7A1
22lichen planus30.3DST, IVL, FLG, COL17A1, KRT1, LAMC2
23pemphigus30.1DST
24basal cell carcinoma30.1COL17A1, ITGB4, IVL, DST, MMP1, LAMC2
25keratosis30.1KRT1, IVL, FLG
26keratoacanthoma30.1IVL
27breast cancer30.1ITGB4, ITGA6, IVL, MMP1, KRT5, KRT1
28sarcoma30.1LAMC2
29congenital ichthyosiform erythroderma30.1IVL, FLG
30esophagitis10.8
31muscular dystrophy10.8
32generalized dominant dystrophic epidermolysis bullosa10.7
33severe generalized recessive dystrophic epidermolysis bullosa10.6
34epidermolysis bullosa dystrophica, ar10.6
35lupus erythematosus10.6
36epidermolysis bullosa dystrophica, ad10.6
37amyloidosis10.6
38epidermolysis bullosa, lethal acantholytic10.6
39epidermolysis bullosa simplex, ogna type10.6
40epidermolysis bullosa simplex with muscular dystrophy10.6
41crohn's disease10.6
42epidermolysis bullosa, pretibial10.6
43systemic lupus erythematosus10.5
44recessive dystrophic epidermolysis bullosa, generalized, other10.5
45collagen disease10.5
46laryngitis10.5
47epidermolysis bullosa, junctional, with pyloric stenosis10.5
48epidermolysis bullosa simplex-mp10.5
49epidermolysis bullosa simplex with anodontia/hypodontia10.5
50centripetalis recessive dystrophic epidermolysis bullosa10.5

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



Diseases related to epidermolysis bullosa

Clinical Features for Epidermolysis Bullosa

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Drugs & Therapeutics for Epidermolysis Bullosa

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Epidermolysis Bullosa

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Inferred drug relations via UMLS60/NDF-RT40:

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Genetic Tests for Epidermolysis Bullosa

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Anatomical Context for Epidermolysis Bullosa

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32MalaCards
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MalaCards organs/tissues related to Epidermolysis Bullosa:

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

Animal Models for Epidermolysis Bullosa or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Epidermolysis Bullosa:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001077110.4LAMB3, COL7A1, COL17A1, ITGB4, ITGA6, DST
2MP:001076810.4DST, FLG, ITGA6, ITGB4, COL17A1, PLEC
3MP:000538110.4COL7A1, ITGB4, ITGA6, DST, KRT5, KRT14
4MP:000538210.2COL7A1, ITGB4, ITGA6, FLG, KRT5, LAMA3

Publications for Epidermolysis Bullosa

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50PubMed
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Articles related to Epidermolysis Bullosa:

(show top 50)    (show all 1818)
idTitleAuthorsYear
1
Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. (24032424)
2013
2
Junctional Epidermolysis Bullosa Incidence and Survival: 5-Year Experience of the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) Nurse Educator, 2007 to 2011. (23721227)
2013
3
Oral manifestations of epidermolysis bullosa dystrophica: a rare genetic disease. (23349175)
2013
4
Cutaneous verrucous xanthoma in a bone marrow transplant recipient with recessive dystrophic epidermolysis bullosa. (23600757)
2013
5
A direct method to determine the strength of the dermal-epidermal junction in a mouse model for epidermolysis bullosa. (22507638)
2012
6
A case of epidermolysis bullosa acquisita associated with laryngeal stenosis. (22215014)
2012
7
Natural gene therapy in dystrophic epidermolysis bullosa. (22004882)
2012
8
Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene. (22639907)
2012
9
Implants placed simultaneously with particulated bone graft in patients diagnosed with recessive dystrophic epidermolysis bullosa. (22182661)
2012
10
Bilateral ultrasound-guided axillary plexus anesthesia in a child with dystrophic epidermolysis bullosa. (22486916)
2012
11
Dystrophic epidermolysis bullosa: two case reports. (21892539)
2011
12
Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands. (21801158)
2011
13
Interdisciplinary management of epidermolysis bullosa in the public setting: the Netherlands as a model of care. (20447507)
2010
14
Linear perforating lesions in dystrophic epidermolysis bullosa: is it Koebner's phenomenon? (21079335)
2010
15
Low-level laser therapy for the treatment of epidermolysis bullosa: a case report. (20629531)
2010
16
Epidermolysis bullosa acquisita associated with psoriasis. (20526561)
2010
17
Epidermolysis bullosa simplex with muscular dystrophy. (20447487)
2010
18
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (20108434)
2010
19
Common wound colonizers in patients with epidermolysis bullosa. (20199405)
2010
20
Novel human pathological mutations. Gene symbol: COL7A1. Disease: Epidermolysis bullosa dystrophica. (20108398)
2010
21
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. (20016501)
2010
22
Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex. (18704110)
2009
23
Topical silver sulfadiazine-induced systemic argyria in a patient with severe generalized dystrophic epidermolysis bullosa. (18565180)
2008
24
Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. (18348258)
2008
25
Double gastric outlet obstruction with epidermolysis bullosa in a neonate. (16877835)
2006
26
Childhood epidermolysis bullosa acquisita with autoantibodies against the noncollagenous 1 and 2 domains of type VII collagen: case report and review of the literature. (17034540)
2006
27
A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa. (16634910)
2006
28
Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies. (16172808)
2005
29
Cyclosporine controls epidermolysis bullosa acquisita co-occurring with acquired factor VIII deficiency. (16101876)
2005
30
Epidermolysis bullosa pruriginosa--report of three cases. (16394385)
2005
31
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
32
Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia. (15491419)
2004
33
Epidermolysis bullosa simplex: localized (Weber-Cockayne type). (15690931)
2004
34
Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein. (12787275)
2003
35
Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients. (12603865)
2003
36
Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings. (11174408)
2001
37
DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa. (11298117)
2001
38
A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease. (10971341)
2000
39
DNA-based prenatal diagnosis in epidermolysis bullosa]. (9451906)
1998
40
Linear IgA disease with clinical and immunopathological features of epidermolysis bullosa acquisita. (9263315)
1997
41
Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. (8757758)
1996
42
Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. (8618020)
1996
43
Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice. (8673141)
1996
44
Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple- helical domain of type VII collagen. (8541842)
1995
45
A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis. (7688405)
1993
46
Pathological case of the month. Junctional epidermolysis bullosa. (8427249)
1993
47
Epidermolysis bullosa dystrophica. (6638465)
1983
48
Epidermolysis bullosa dystrophica recessive: oral surgery and anesthetic considerations. (6957566)
1982
49
Epidermolysis bullosa dystrophica (dermolytic bullous dermatosis). (4449869)
1974
50
Epidermolysis bullosa dystrophica--anesthetic management. (5001417)
1971

Genetic Variations for Epidermolysis Bullosa

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Expression for genes affiliated with Epidermolysis Bullosa

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1BioGPS, 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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37NCBI BioSystems Database, 53Reactome, 29KEGG, 4Cell Signaling Technology, 12EMD Millipore, 51QIAGEN
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Pathways related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5KRT14, KRT5, MMP1
210.5COL7A1, LAMA3, LAMB3, LAMC2
310.5LAMC2, LAMB3, LAMA3
410.5ITGB4, ITGA6, PLEC
5
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10.5LAMB3, ITGA6
610.5COL17A1, ITGB4, ITGA6
710.5LAMC2, LAMB3, LAMA3, ITGA6
810.5DST, PLEC, KRT5, KRT1, KRT14
910.5ITGB4, ITGA6, LAMA3, LAMB3, LAMC2
10
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10.5LAMC2, LAMB3, LAMA3, ITGA6, ITGB4
11
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10.5ITGB4, ITGA6, LAMA3, LAMB3, LAMC2
12
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10.5ITGB4, ITGA6, LAMA3, LAMB3, LAMC2
13
Cell adhesion ECM remodeling
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10.5MMP1, LAMA3, LAMB3, LAMC2
14
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10.5COL7A1, COL17A1, ITGB4, ITGA6, LAMA3, LAMB3
15
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10.5COL7A1, COL17A1, ITGB4, ITGA6, LAMA3, LAMB3
16
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10.5LAMC2, COL17A1, LAMB3, LAMA3, KRT14, KRT5
1710.5LAMA3, KRT14, KRT5, PLEC, DST, ITGA6
1810.5LAMC2, LAMB3, LAMA3, MMP1, ITGA6
1910.4LAMC2, LAMB3, LAMA3, PLEC, DST, ITGA6
20
Hide members
10.4COL7A1, COL17A1, ITGB4, ITGA6, MMP1, LAMA3
2110.4ITGB4, IVL, MMP1, LAMA3
22
Hide members
10.4COL7A1, COL17A1, LAMC2, LAMB3, LAMA3, PLEC

Compounds for genes affiliated with Epidermolysis Bullosa

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1kalinin4410.8LAMC2, LAMB3, LAMA3, KRT5, DST, ITGA6
2calcipotriol44 59 28 1113.8ITGB4, FLG, IVL, KRT5, KRT14
3retinoid4410.8ITGA6, FLG, IVL, MMP1, KRT5, KRT1
4hematoxylin4410.8FLG, IVL, MMP1, KRT1, KRT14
5paraffin4410.8IVL, DST, MMP1, KRT5, KRT1, KRT14
6retinoic acid44 2411.8ITGB4, ITGA6, FLG, IVL, MMP1, KRT5
7urea44 11 2412.8KRT14, KRT5, IVL, FLG
8serine4410.7COL7A1, COL17A1, ITGB4, FLG, IVL, MMP1
912-o-tetradecanoylphorbol 13-acetate4410.7IVL, DST, MMP1, KRT5, KRT1
10gold4410.7COL17A1, IVL, DST, LAMC2
11bromodeoxyuridine4410.7KRT14, KRT1, IVL, FLG
12proline4410.7COL17A1, IVL, KRT5, KRT1, KRT14
13nicotine44 49 28 1113.7FLG, IVL, MMP1, KRT1
14phenylalanine4410.7COL17A1, KRT5, KRT1, KRT14
15calcium44 49 11 2413.7COL17A1, ITGB4, FLG, IVL, DST, MMP1
16tyrosine4410.7COL17A1, ITGB4, ITGA6, FLG, IVL, KRT5
17dithranol4410.6IVL, FLG
18arsenate4410.6IVL, FLG
19progesterone44 59 28 11 2414.6ITGA6, MMP1, KRT5, KRT1, KRT14
20sodium dodecylsulfate4410.5KRT1, MMP1, IVL
21hpvs4410.5KRT14, ITGA6
22acitretin44 1111.5KRT5, IVL
23gf 109203x44 5911.3FLG, IVL, MMP1
24hydrocortisone44 2 59 1113.2KRT14, MMP1, IVL

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
1basement membraneGO:00560410.6LAMA3, COL7A1, COL17A1, ITGB4, ITGA6, DST
2hemidesmosomeGO:03005610.5PLEC, DST, ITGA6, ITGB4, COL17A1
3laminin-5 complexGO:00561010.5LAMA3, LAMB3, LAMC2
4keratin filamentGO:04509510.5KRT14, KRT1, KRT5
5intermediate filamentGO:00588210.4KRT14, KRT5, DST, FLG, BFSP2
6basal plasma membraneGO:00992510.2ITGB4, ITGA6, DST

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1hemidesmosome assemblyGO:03158110.7LAMC2, COL17A1, LAMB3, LAMA3, KRT14, KRT5
2cell junction assemblyGO:03432910.7LAMB3, LAMA3, KRT14, KRT5, PLEC, ITGA6
3epidermis developmentGO:00854410.6COL7A1, COL17A1, KRT5, KRT14, LAMA3, LAMB3
4extracellular matrix organizationGO:03019810.6COL7A1, COL17A1, ITGB4, ITGA6, DST, MMP1
5cell adhesionGO:00715510.6COL7A1, ITGB4, DST, LAMA3, LAMB3, LAMC2
6intermediate filament cytoskeleton organizationGO:04510410.6DST, BFSP2
7integrin-mediated signaling pathwayGO:00722910.5ITGB4, ITGA6, DST
8cell motilityGO:04887010.5DST, ITGB4
9collagen catabolic processGO:03057410.5MMP1, COL17A1, COL7A1
10cell-matrix adhesionGO:00716010.4COL17A1, ITGB4, ITGA6
11extracellular matrix disassemblyGO:02261710.2MMP1, COL17A1, COL7A1

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00520010.5KRT14, KRT5, BFSP2
2structural molecule activityGO:00519810.1LAMB3, LAMA3, LAD1, KRT1, IVL, FLG

Products for genes affiliated with Epidermolysis Bullosa

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  • Antibodies
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Sources for Epidermolysis Bullosa

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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