MCID: EPD016
MIFTS: 53

Epidermolysis Bullosa malady

Summaries for Epidermolysis Bullosa

Sources:
43NIH Rare Diseases, 64Wikipedia, 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 Anchoring fibril formation. The drugs phenytoin and phenytoin sodium and the compounds kalinin and calcipotriol have been mentioned in the context of this disorder. Related mouse phenotypes are integument and mortality/aging.

Wikipedia:64 Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and... more...

Aliases & Classifications for Epidermolysis Bullosa

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt
See all sources

Aliases & Descriptions:

epidermolysis bullosa 8 43 10 45 61
acantholysis bullosa 8


External Ids:

Disease Ontology8 DOID:2730
MeSH35 D004820
SNOMED-CT57 61003004, 205580008
NCIt40 C67383

Related Diseases for Epidermolysis Bullosa

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the epidermolysis bullosa with pyloric atresia family:

epidermolysis bullosa

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

(show top 50)    (show all 224)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa acquisita32.1LAMC2, LAMA3, LAD1, DST, ITGB4, COL17A1
2epidermolysis bullosa simplex32.0COL17A1, ITGB4, FLG, IVL, DST, PLEC
3junctional epidermolysis bullosa32.0COL17A1, LAMA3, LAMB3, LAMC2
4epidermolysis bullosa dystrophica31.8MMP1, COL7A1, FLG
5epidermolysis bullosa pruriginosa31.4COL7A1
6squamous cell carcinoma31.4KRT14, COL7A1, IVL, DST, MMP1, ITGA6
7bullous pemphigoid31.4ITGA6, DST, COL17A1, COL7A1
8junctional epidermolysis bullosa, herlitz type31.2LAMA3, LAMC2, LAMB3
9epidermolysis bullosa simplex, generalized31.2KRT14, KRT5
10junctional epidermolysis bullosa, non-herlitz type31.2COL17A1, LAMB3, ITGB4
11epidermolysis bullosa with pyloric atresia31.2ITGB4, ITGA6
12epidermolysis bullosa simplex, dowling-meara type31.2KRT14, KRT5
13epidermolysis bullosa simplex, localized31.1KRT5, KRT14
14cicatricial pemphigoid31.0COL7A1, COL17A1
15epidermolysis bullosa simplex with mottled pigmentation30.8KRT5
16kindler syndrome30.7COL7A1, ITGB4
17epidermolysis bullosa simplex with pyloric atresia30.6ITGB4, ITGA6
18epidermolytic hyperkeratosis30.5FLG, KRT1, KRT5
19lichen planus30.4LAMC2, KRT1, DST, IVL, FLG, COL17A1
20keratoderma30.4KRT14, KRT1
21pemphigus30.1DST
22basal cell carcinoma30.1MMP1, DST, IVL, ITGB4, COL17A1, LAMC2
23congenital ichthyosiform erythroderma30.1IVL, FLG
24recessive dystrophic epidermolysis bullosa11.4
25dominant dystrophic epidermolysis bullosa11.1
26epidermolysis bullosa, pretibial10.7
27severe generalized recessive dystrophic epidermolysis bullosa10.7
28generalized dominant dystrophic epidermolysis bullosa10.7
29epidermolysis bullosa, lethal acantholytic10.6
30epidermolysis bullosa dystrophica, ad10.6
31amyloidosis10.6
32aplasia cutis congenita10.6
33epidermolysis bullosa dystrophica, ar10.6
34systemic lupus erythematosus10.6
35epidermolysis bullosa simplex, ogna type10.6
36epidermolysis bullosa simplex with muscular dystrophy10.6
37junctional epidermolysis bullosa inversa10.5
38recessive dystrophic epidermolysis bullosa, generalized, other10.5
39epidermolysis bullosa simplex superficialis10.5
40late-onset junctional epidermolysis bullosa10.5
41n syndrome10.5
42epidermolysis bullosa, junctional, with pyloric stenosis10.5
43autosomal recessive disease10.4
44peeling skin syndrome10.4
45nephropathy with pretibial epidermolysis bullosa and deafness10.4
46epidermolysis bullosa, nonspecific, autosomal recessive10.4
47epidermolysis bullosa simplex, recessive 110.4
48interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital10.4
49mucous membrane pemphigoid10.4
50bullous systemic lupus erythematosus10.4

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



Diseases related to epidermolysis bullosa

Clinical Features for Epidermolysis Bullosa

Drugs & Therapeutics for Epidermolysis Bullosa

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Epidermolysis Bullosa

Drug clinical trials:

Search ClinicalTrials for Epidermolysis Bullosa

Search NIH Clinical Center for Epidermolysis Bullosa

Search CenterWatch for Epidermolysis Bullosa

Inferred drug relations via UMLS61/NDF-RT41:

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Genetic Tests for Epidermolysis Bullosa

Anatomical Context for Epidermolysis Bullosa

Animal Models for Epidermolysis Bullosa or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Epidermolysis Bullosa:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001077110.4COL7A1, LAMB3, KRT14, KRT1, KRT5, DST
2MP:001076810.4LAMC2, LAMB3, COL7A1, COL17A1, KRT14, KRT1
3MP:000538110.4COL7A1, ITGB4, ITGA6, DST, KRT5, KRT14
4MP:000538210.2LAMC2, ITGA6, LAMB3, LAMA3, KRT5, FLG

Publications for Epidermolysis Bullosa

Sources:
51PubMed
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Articles related to Epidermolysis Bullosa:

(show top 50)    (show all 1818)
idTitleAuthorsYear
1
B cells, dendritic cells, and macrophages are required to induce an autoreactive CD4 helper T cell response in experimental epidermolysis bullosa acquisita. (23960233)
2013
2
Epidermolysis bullosa and congenital pyloric atresia. (24068383)
2013
3
Coexistence of KRT14 and KRT5 mutations in Polish patient with Epidermolysis Bullosa Simplex. (24024749)
2013
4
Human Cord Blood Derived Unrestricted Somatic Stem Cells Promote Wound Healing and Have Therapeutic Potential for Patients With Recessive Dystrophic Epidermolysis Bullosa. (23394106)
2013
5
Childhood epidermolysis bullosa acquisita associated with severe dental alterations: a case presentation. (23442118)
2013
6
Expression of a mutated allele, non-reduced by aging, in a Japanese family with localized epidermolysis bullosa simplex due to a novel mutation, p.Arg169Gly, of keratin 5 gene. (23588208)
2013
7
Topography of distinct Staphylococcus aureus types in chronic wounds of patients with epidermolysis bullosa. (23825650)
2013
8
Management of severe epidermolysis bullosa by haematopoietic transplant: principles, perspectives and pitfalls. (23016552)
2012
9
Management of a pediatric patient with epidermolysis bullosa receiving comprehensive dental treatment under general anesthesia. (22795161)
2012
10
Epidermolysis bullosa acquisita: autoimmunity to anchoring fibril collagen. (21955050)
2012
11
Identification of quantitative trait loci in experimental epidermolysis bullosa acquisita. (22297639)
2012
12
Epidermolysis bullosa in a newborn. (22048525)
2012
13
Localized epidermolysis bullosa simplex (Weber-Cockayne type). (22206097)
2011
14
Inherited epidermolysis bullosa: an update and suggested dental care considerations. (21881067)
2011
15
Lesion induced by blood pressure cuff in epidermolysis bullosa: F-18 FDG PET/CT imaging. (21368614)
2011
16
Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa. (20574443)
2010
17
Anaesthetic management of an infant with epidermolysis bullosa undergoing inguinal hernia repair. (20527654)
2010
18
A case of non-hallopeau-siemens recessive dystrophic epidermolysis bullosa. (20548856)
2009
19
Verruciform xanthoma in recessive dystrophic epidermolysis bullosa Hallopeau-Siemens. (17822501)
2007
20
Epidermolysis bullosa acquisita. (17511948)
2007
21
Corneal ulcer in a young child with autosomal recessive epidermolysis bullosa. (17162976)
2006
22
Junctional epidermolysis bullosa in two domestic shorthair kittens. (15725108)
2005
23
Involvement of p53 and p16 tumor suppressor genes in recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. (15373786)
2004
24
Apligraf in the treatment of severe mitten deformity associated with recessive dystrophic epidermolysis bullosa. (12900618)
2003
25
Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex. (11851893)
2002
26
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. (11810295)
2002
27
Management of generalized pruritus in dominant dystrophic epidermolysis bullosa using low-dose oral cyclosporin. (12430742)
2002
28
The clinical spectrum of epidermolysis bullosa simplex. (10735952)
2000
29
Balloon dilation of an esophageal stenosis in a patient with recessive dystrophic epidermolysis bullosa. (11123785)
2000
30
Spinal anaesthesia in a patient with epidermolysis bullosa dystrophica. (10969376)
2000
31
Epidermolysis bullosa simplex (Dowling-Meara type) associated with pyloric atresia and congenital urologic abnormalities. (10957900)
2000
32
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
33
Successful Breast Conservation in a Patient with Epidermolysis Bullosa Simplex. (11348322)
1999
34
Expression of plectin and HD1 epitopes in patients with epidermolysis bullosa simplex associated with muscular dystrophy. (10552210)
1999
35
Squamous cell carcinoma secondary to recessive dystrophic epidermolysis bullosa: report of eight tumours in four patients. (10642056)
1999
36
Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia. (9930337)
1998
37
Epidermolysis bullosa pruriginosa. (9267744)
1997
38
Successful treatment of epidermolysis bullosa acquisita with mesalazine. (9274650)
1997
39
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. (9326326)
1997
40
Herlitz junctional epidermolysis bullosa: a case report and review of current diagnostic methods. (9263316)
1997
41
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. (7550320)
1995
42
Topical phenytoin accelerates healing in epidermolysis bullosa simplex. (7599395)
1995
43
Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1. (7987320)
1994
44
Constitutive activation of the collagenase promoter in recessive dystrophic epidermolysis bullosa fibroblasts: role of endogenously activated AP-1. (8143767)
1994
45
Anchoring fibrils, collagen VII, and neutral metalloproteases in recessive dystrophic epidermolysis bullosa inversa. (1431215)
1992
46
Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa. (3286309)
1988
47
Epidermolysis bullosa acquisita. The search for identity. (3947122)
1986
48
Blistering eruption in healthy newborns. Case 1. Epidermolysis bullosa simplex. (3947129)
1986
49
Epidermolysis bullosa dystrophica polydysplastica. A case of anesthetic management in oral surgery. (266679)
1977
50
A case of dystrophic dentition in epidermolysis bullosa dystrophica. (13944469)
1963

Genetic Variations for Epidermolysis Bullosa

Expression for genes affiliated with Epidermolysis Bullosa

Sources:
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

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 4Cell Signaling Technology, 12EMD Millipore, 52QIAGEN
See all sources

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
Hide members
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
Hide members
10.5LAMC2, LAMB3, LAMA3, ITGA6, ITGB4
11
Hide members
10.5ITGB4, ITGA6, LAMA3, LAMB3, LAMC2
12
Hide members
10.5ITGB4, ITGA6, LAMA3, LAMB3, LAMC2
13
Cell adhesion ECM remodeling
Hide members
10.5MMP1, LAMA3, LAMB3, LAMC2
14
Hide members
10.5COL7A1, COL17A1, ITGB4, ITGA6, LAMA3, LAMB3
15
Hide members
10.5COL7A1, COL17A1, ITGB4, ITGA6, LAMA3, LAMB3
16
Hide members
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

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1kalinin4510.8LAMC2, LAMB3, LAMA3, KRT5, DST, ITGA6
2calcipotriol45 60 29 1113.8ITGB4, FLG, IVL, KRT5, KRT14
3retinoid4510.8ITGA6, FLG, IVL, MMP1, KRT5, KRT1
4hematoxylin4510.8FLG, IVL, MMP1, KRT1, KRT14
5paraffin4510.8IVL, DST, MMP1, KRT5, KRT1, KRT14
6retinoic acid45 2411.8ITGB4, ITGA6, FLG, IVL, MMP1, KRT5
7urea45 11 2412.8KRT14, KRT5, IVL, FLG
8serine4510.7COL7A1, COL17A1, ITGB4, FLG, IVL, MMP1
912-o-tetradecanoylphorbol 13-acetate4510.7IVL, DST, MMP1, KRT5, KRT1
10gold4510.7COL17A1, IVL, DST, LAMC2
11bromodeoxyuridine4510.7KRT14, KRT1, IVL, FLG
12proline4510.7COL17A1, IVL, KRT5, KRT1, KRT14
13nicotine45 50 29 1113.7FLG, IVL, MMP1, KRT1
14phenylalanine4510.7COL17A1, KRT5, KRT1, KRT14
15calcium45 50 11 2413.7COL17A1, ITGB4, FLG, IVL, DST, MMP1
16tyrosine4510.7COL17A1, ITGB4, ITGA6, FLG, IVL, KRT5
17dithranol4510.6IVL, FLG
18arsenate4510.6IVL, FLG
19progesterone45 60 29 11 2414.6ITGA6, MMP1, KRT5, KRT1, KRT14
20sodium dodecylsulfate4510.5KRT1, MMP1, IVL
21hpvs4510.5KRT14, ITGA6
22acitretin45 1111.5KRT5, IVL
23gf 109203x45 6011.3FLG, IVL, MMP1
24hydrocortisone45 2 60 1113.2KRT14, MMP1, IVL

GO Terms for genes affiliated with Epidermolysis Bullosa

Sources:
16Gene Ontology
See all sources

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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Sources for Epidermolysis Bullosa

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet