EBA
MCID: EPD006
MIFTS: 55

Epidermolysis Bullosa Acquisita (EBA) malady

Skin category

Summaries for Epidermolysis Bullosa Acquisita

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Epidermolysis bullosa acquisita is a rare autoimmune disorder that causes the skin to blister in response to minor injury. common areas of blistering include the hands, feet, knees, elbows, and buttocks.  it can also affect the mouth, nose, and eyes.  the blistering may cause scarring. epidermolysis bullosa acquisita usually affects adults.  sometimes it occurs in association with other conditions such as crohns disease and lupus. last updated: 10/21/2011

MalaCards: Epidermolysis Bullosa Acquisita, also known as acquired epidermolysis bullosa, is related to bullous pemphigoid and cicatricial pemphigoid, and has symptoms including vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment, enanthema/aphtosa/aphta/leukoplakia and hair and scalp anomalies. An important gene associated with Epidermolysis Bullosa Acquisita is LAD1 (ladinin 1), and among its related pathways are Rheumatoid arthritis and Leishmaniasis. The compounds norepinephrine and mycophenolate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, lymph node and colon, and related mouse phenotypes are renal/urinary system and craniofacial.

Wikipedia:64 Epidermolysis bullosa acquisita is a chronic subepidermal blistering disease associated with... more...

Aliases & Classifications for Epidermolysis Bullosa Acquisita

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
epidermolysis bullosa acquisita:
Inheritance: Sporadic; Age of onset: Adulthood


Aliases & Descriptions:

epidermolysis bullosa acquisita 8 43 10 45 49 61
acquired epidermolysis bullosa 8 49
acquired form of epidermolysis bullosa 43
eb acquisita 43
eba 43


External Ids:

Disease Ontology8 DOID:4313
MeSH35 D016107
NCIt40 C84690
SNOMED-CT57 2772003, 200911009
ICD10 via Orphanet26 L12.3
SNOMED-CT via Orphanet58 2772003
ICD1025 L12.3

Related Diseases for Epidermolysis Bullosa Acquisita

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 152)
idRelated DiseaseScoreTop Affiliating Genes
1bullous pemphigoid31.5DST, COL7A1, COL17A1
2cicatricial pemphigoid31.2COL7A1, COL17A1
3systemic lupus erythematosus31.1HLA-DRB1, CD79A, IL2RA, IL2RB, SERPINH1
4amyloidosis30.9CD79A
5relapsing polychondritis30.7MATN1
6ulcerative colitis30.7HLA-DRB1, CD79A, IL2RA, LAMC2
7graves' disease30.4IL2RA, HLA-DRB1
8hepatitis b30.4CD79A, HLA-DRB1
9graft versus host disease30.4CSF2, HLA-DRB1, IL2RA, IL2RB
10squamous cell carcinoma30.4COL7A1, COL17A1, ITGB4, DSG3, DST, DSG1
11bullous systemic lupus erythematosus10.6
12mucous membrane pemphigoid10.6
13crohn's disease10.5
14blindness10.5
15cryoglobulinemia10.3
16pulmonary tuberculosis10.3
17lung clear cell carcinoma10.3
18porphyria cutanea tarda10.3
19cutaneous lupus erythematosus10.3
20hepatitis e10.3
21factor viii deficiency10.3
22factor v deficiency10.3
23factor vii deficiency10.3
24epidermolysis bullosa dystrophica10.3
25n syndrome10.3
26vitiligo10.3
27hepatitis a10.3
28tuberculosis10.3
29toxic epidermal necrolysis10.3
30cytomegalovirus infection10.3
31dysphagia10.3
32subacute cutaneous lupus erythematosus10.3
33benign schwannoma10.3
34ocular cicatricial pemphigoid10.0ITGB4
35cervical intraepithelial neoplasia10.0ITGB4
36purpura10.0CD79A
37interstitial lung disease10.0CD79A
38lupus erythematosus10.0CD79A
39aspergillosis10.0CD79A
40rubella10.0CD79A
41meningitis10.0CD79A
42nephritis10.0CD79A
43autoimmune hemolytic anemia10.0CD79A
44toxoplasmosis10.0CD79A
45mumps10.0CD79A
46atopy10.0CD79A
47synovitis10.0MATN1
48sinusitis10.0CD79A
49schistosomiasis10.0CD79A
50rhinitis10.0CD79A

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



Diseases related to epidermolysis bullosa acquisita

Clinical Features for Epidermolysis Bullosa Acquisita

Sources:
49Orphanet
See all sources


Symptoms:

49 (show all 11)
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • enanthema/aphtosa/aphta/leukoplakia
  • hair and scalp anomalies
  • follicular/erythematous/edematous papules/milium
  • nails anomalies
  • abnormal scarring/cheloids/hypertrophic scars
  • urticaria
  • pruritus/itching
  • thick skin/pachydermia/orange skin
  • intestinal/colonic anomaly
  • acute abdominal pain/colic

Drugs & Therapeutics for Epidermolysis Bullosa Acquisita

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

Approved drugs:

Search CenterWatch for Epidermolysis Bullosa Acquisita

Drug clinical trials:

Search ClinicalTrials for Epidermolysis Bullosa Acquisita

Search NIH Clinical Center for Epidermolysis Bullosa Acquisita

Search CenterWatch for Epidermolysis Bullosa Acquisita

Genetic Tests for Epidermolysis Bullosa Acquisita

Anatomical Context for Epidermolysis Bullosa Acquisita

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Epidermolysis Bullosa Acquisita:

33
Bone marrow, Lymph node, Colon, Lung, Skin, T cells, B cells

Animal Models for Epidermolysis Bullosa Acquisita or affiliated genes

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

Publications for Epidermolysis Bullosa Acquisita

Sources:
51PubMed
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Articles related to Epidermolysis Bullosa Acquisita:

(show top 50)    (show all 348)
idTitleAuthorsYear
1
GM-CSF Modulates Autoantibody Production and Skin Blistering in Experimental Epidermolysis Bullosa Acquisita. (24337383)
2014
2
Metabolite analysis distinguishes between mice with epidermolysis bullosa acquisita and healthy mice. (23800341)
2013
3
B cells, dendritic cells, and macrophages are required to induce an autoreactive CD4 helper T cell response in experimental epidermolysis bullosa acquisita. (23960233)
2013
4
IgG autoantibody subclass analysis as a tool to differentiate epidermolysis bullosa acquisita with overlapping features of bullous systemic lupus erythematosus. (23768307)
2013
5
Model systems duplicating epidermolysis bullosa acquisita: a methodological review. (21923614)
2012
6
Successful treatment of epidermolysis bullosa acquisita with rituximab therapy. (22611565)
2012
7
False-positive intercellular indirect immunofluorescence test due to anti-blood group antibodies in a patient with epidermolysis bullosa acquisita. (21413961)
2011
8
Pathogenesis of epidermolysis bullosa acquisita. (21605817)
2011
9
Autoantibody-induced intestinal inflammation and weight loss in experimental epidermolysis bullosa acquisita. (21381035)
2011
10
Clinical and immunopathological evaluation of epidermolysis bullosa acquisita. (20456382)
2011
11
Metal sensitization precipitates skin blistering in epidermolysis bullosa acquisita. (20507396)
2010
12
Epidermolysis bullosa acquisita associated with psoriasis. (20526561)
2010
13
Inflammatory epidermolysis bullosa acquisita: case report. (19503987)
2009
14
Familial epidermolysis bullosa acquisita. (19265615)
2008
15
Experimental models of epidermolysis bullosa acquisita. (17518993)
2007
16
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
17
Epidermolysis bullosa acquisita occurring in 2 patients with hepatitis C. (16635676)
2006
18
Remission of recalcitrant epidermolysis bullosa acquisita (EBA) with colchicine monotherapy. (15906541)
2005
19
Epidermolysis bullosa acquisita in a child: an additional case. (15807745)
2005
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
Epidermolysis bullosa acquisita in childhood. (12692360)
2003
22
A case of anti-p200 pemphigoid clinically mimicking inflammatory epidermolysis bullosa acquisita. (12786845)
2003
23
Epidermolysis bullosa acquisita responsive to cyclosporin therapy. (11495534)
2001
24
Epidermolysis bullosa acquisita: update and review. (11705680)
2001
25
Serum IgA autoantibodies in patients with epidermolysis bullosa acquisita: a high frequency of detection. (10681627)
2000
26
Treatment of epidermolysis bullosa acquisita with mycophenolate mofetil and autologous keratinocyte grafting. (10583185)
1999
27
Epidermolysis bullosa acquisita in a young female. (20921694)
1999
28
Ocular involvement in IgA-epidermolysis bullosa acquisita. (10583173)
1999
29
Severe, refractory epidermolysis bullosa acquisita complicated by an oesophageal stricture responding to intravenous immune globulin. (9990396)
1998
30
Treatment of refractory epidermolysis bullosa acquisita with extracorporeal photochemotherapy. (9115929)
1997
31
Epidermolysis bullosa acquisita associated with epidermal-binding circulating antibodies. (9155969)
1997
32
IgA-epidermolysis bullosa acquisita in a child resulting in blindness. (9292080)
1997
33
Successful treatment of epidermolysis bullosa acquisita using intravenous immunoglobulins. (7772494)
1995
34
Laryngeal manifestations of epidermolysis bullosa acquisita. (7646856)
1995
35
Corneal perforation as a complication of epidermolysis bullosa acquisita. (8543086)
1995
36
Optimal conditions of 1 M NaCl splitting technique to demonstrate basement membrane zone antigens in bullous pemphigoid, epidermolysis bullosa acquisita and linear IgA bullous dermatoses. (8049556)
1994
37
Epidermolysis bullosa acquisita--a case with upper airways obstruction requiring tracheostomy and responding to cyclosporin. (8252795)
1993
38
Floor-pattern salt-split skin cannot distinguish bullous pemphigoid from epidermolysis bullosa acquisita. Use of toad skin. (8507077)
1993
39
Epidermolysis bullosa acquisita in a 3 1/2-year-old girl. (1469146)
1992
40
Differences in direct immunofluorescence staining patterns in epidermolysis bullosa acquisita and bullous pemphigoid. (1430385)
1992
41
Differential diagnosis of bullous pemphigoid and epidermolysis bullosa acquisita. (1794202)
1991
42
Epidermolysis bullosa acquisita preceding the development of systemic lupus erythematosus. (2319019)
1990
43
The presence of intra-lamina lucida blister formation in epidermolysis bullosa acquisita: possible role of leukocytes. (2642510)
1989
44
Epidermolysis bullosa acquisita. Direct immunofluorescence and ultrastructural studies. (3307479)
1987
45
Bullous systemic lupus erythematosus: an unusual clinical course and detectable circulating autoantibodies to the epidermolysis bullosa acquisita antigen. (3525621)
1986
46
Epidermolysis bullosa acquisita of the immunopathological type (dermolytic pemphigoid). (4008982)
1985
47
Ultrastructural and immuno-electron microscopic study in a case of epidermolysis bullosa acquisita. (7336921)
1981
48
The relationship of epidermolysis bullosa acquisita to cicatricial pemphigoid. (7015907)
1981
49
Epidermolysis bullosa acquisita. Diagnosis by electron microscopy. (1000817)
1976
50
Epidermolysis bullosa (acquisita). (21001303)
1946

Genetic Variations for Epidermolysis Bullosa Acquisita

Expression for genes affiliated with Epidermolysis Bullosa Acquisita

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Epidermolysis Bullosa Acquisita

Search GEO for disease gene expression data for Epidermolysis Bullosa Acquisita.

Pathways for genes affiliated with Epidermolysis Bullosa Acquisita

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 53R&D Systems, 12EMD Millipore, 52QIAGEN
See all sources

Pathways related to Epidermolysis Bullosa Acquisita according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1CSF2
2
Hide members
10.0HLA-DRB1
310.0HLA-DRB1
49.8LAMC2, LAMA3, COL7A1
59.6LAMC2, IL2RB, IL2RA
6
Hide members
9.4IL2RB, IL2RA, CSF2
7
Hide members
9.4CSF2, IL2RA, IL2RB
89.4IL2RB, IL2RA, HLA-DRB1
9
Hide members
9.4HLA-DRB1, IL2RA, IL2RB
109.4COL17A1, ITGB4, DST, LAMA3, LAMC2
11
Hide members
9.4COL17A1, ITGB4, DST, LAMA3, LAMC2
129.4LAMC2, LAMA3, DST, ITGB4, COL17A1
13
Hide members
9.3COL7A1, COL17A1, ITGB4, LAMA3, LAMC2
149.3CSF2, LAMA3, TGFB1
159.3DSG1, DSG3
169.3IL2RA, HLA-DRB1, CSF2
17
Hide members
9.2ITGB4, MATN1, LAMA3, LAMC2
189.2LAMC2, LAMA3, IL2RB, IL2RA, ITGB4
199.2HLA-DRB1, IL2RA, TGFB1
20
Hide members
9.1HLA-DRB1, CD79A, IL2RA, IL2RB
219.1CSF2, LAMA3, LAMC2, TGFB1
22
Hide members
9.0CSF2, HLA-DRB1, IL2RA, IL2RB
23
Hide members
8.9COL7A1, CSF2, ITGB4, IL2RB, LAMA3, LAMC2
24
Hide members
8.7HLA-DRB1, ITGB4, CD79A, IL2RA, TGFB1
25
Hide members
8.7TGFB1, IL2RB, IL2RA, ITGB4, CSF2
268.4TGFB1, IL2RB, IL2RA, HLA-DRB1, CSF2
27
Hide members
8.2COL7A1, COL17A1, ITGB4, CD79A, IL2RA, LAMA3
28
Hide members
8.1COL7A1, COL17A1, ITGB4, DST, MATN1, LAMA3

Compounds for genes affiliated with Epidermolysis Bullosa Acquisita

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

Compounds related to Epidermolysis Bullosa Acquisita according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1norepinephrine45 11 2412.3IL2RB
2mycophenolate4510.3IL2RA, IL2RB
3lentinan4510.2IL2RA, IL2RB
4mizoribine4510.2IL2RA, CD79A
5thymoglobulin4510.2IL2RA, IL2RB
6denileukin diftitox45 50 1112.2IL2RB, IL2RA
7gluten4510.1IL2RA, CD79A
8Aldesleukin1110.1IL2RB, IL2RA
9pentoxifylline45 1111.1CSF2, IL2RB
10kalinin4510.0ITGB4, DST, LAMA3, LAMC2
11con a4510.0IL2RB, IL2RA, CD79A
12cycloheximide4510.0IL2RB, DST, COL17A1
13mycophenolate mofetil45 50 1112.0CD79A, IL2RA, IL2RB
14erythromycin45 50 2 1113.0TGFB1, IL2RA
15pge2459.9TGFB1, CSF2
16delta9-tetrahydrocannabinol459.9IL2RB, IL2RA
17gold459.9LAMC2, IL2RB, DST, COL17A1
18azithromycin45 1110.8CD79A, CSF2
19ifn-alpha459.7IL2RB, IL2RA, CSF2
20pmma459.7TGFB1, CD79A, CSF2
21betacarotene459.7CD79A, IL2RA, TGFB1
22theophylline45 29 11 2412.6CD79A, IL2RA, TGFB1
23okt3459.6CSF2, CD79A, IL2RA, IL2RB
24neopterin459.6IL2RB, IL2RA, CD79A, CSF2
25procollagen459.6TGFB1, MATN1
26rituximab45 50 1111.5CSF2, DSG1, CD79A, IL2RA
27azathioprine45 50 2 1112.5IL2RB, IL2RA, CD79A
28alginate459.5MATN1, CD79A, TGFB1
29toxin a459.5DSG1, DSG3
30methacholine45 1110.4CSF2, CD79A, IL2RB, TGFB1
31tacrolimus45 50 1111.4CD79A, IL2RA, IL2RB, TGFB1
32bleomycin45 1110.4CSF2, IL2RA, TGFB1
33il 10459.3TGFB1, IL2RB, IL2RA, CSF2
34nifedipine45 50 29 1112.3CSF2, IL2RA, IL2RB, TGFB1
3512-o-tetradecanoylphorbol 13-acetate459.2CSF2, DST, IL2RB, TGFB1
36rantes459.2CSF2, IL2RA, IL2RB, TGFB1
37prednisolone45 29 1111.2IL2RB, IL2RA, CD79A, DSG3
38vitamin d459.1CSF2, CD79A, IL2RA, TGFB1
39aspirin45 50 29 2412.1CSF2, CD79A, IL2RA, IL2RB, TGFB1
40polysaccharide459.1CSF2, CD79A, IL2RA, IL2RB, TGFB1
41histamine45 29 2411.1CSF2, CD79A, IL2RA, IL2RB, TGFB1
42methotrexate45 50 1111.0HLA-DRB1, CD79A, IL2RA, IL2RB, TGFB1
431,25 dihydroxy vitamin d3458.9CSF2, IL2RB, TGFB1
44cyclosporin a45 29 6010.8CSF2, CD79A, IL2RA, IL2RB, SERPINH1, TGFB1
45vegf458.7CSF2, CD79A, IL2RA, IL2RB, SERPINH1, TGFB1
46acetylcholine45 50 29 11 2412.7DSG3, DSG1, CD79A, IL2RA
47ivig458.5FCGRT, IL2RB, CD79A, DSG1, DSG3, CSF2
48retinoic acid45 249.2CSF2, ITGB4, DSG1, MATN1, CD79A, IL2RB
49serine458.2COL7A1, COL17A1, ITGB4, DSG3, DSG1, IL2RB
50tyrosine457.8COL17A1, CSF2, HLA-DRB1, ITGB4, DSG3, IL2RA

GO Terms for genes affiliated with Epidermolysis Bullosa Acquisita

Sources:
16Gene Ontology
See all sources

Cellular components related to Epidermolysis Bullosa Acquisita according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1laminin-5 complexGO:0056109.9LAMC2, LAMA3
2hemidesmosomeGO:0300569.8COL17A1, ITGB4, DST
3basement membraneGO:0056049.2LAMA3, LAD1, DST, ITGB4, COL17A1, COL7A1
4external side of plasma membraneGO:0098978.8HLA-DRB1, CD79A, IL2RA, IL2RB
5extracellular regionGO:0055768.0TGFB1, LAMC2, LAMA3, MATN1, CSF2, COL17A1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1cell junction assemblyGO:0343299.8COL17A1, ITGB4, LAMA3, LAMC2
2epidermis developmentGO:0085449.7LAMC2, LAMA3, COL17A1, COL7A1
3cell motilityGO:0488709.7ITGB4, DST
4inflammatory response to antigenic stimulusGO:0024379.7IL2RA, HLA-DRB1
5negative regulation of immune responseGO:0507779.7IL2RA, TGFB1
6response to woundingGO:0096119.6TGFB1, DST, ITGB4
7hemidesmosome assemblyGO:0315819.6COL17A1, ITGB4, DST, LAMA3, LAMC2
8myeloid dendritic cell differentiationGO:0430119.4TGFB1, CSF2
9cell adhesionGO:0071559.4COL7A1, ITGB4, DST, LAMA3, LAMC2
10negative regulation of T cell proliferationGO:0421309.3HLA-DRB1, IL2RA, TGFB1
11immune responseGO:0069559.0FCGRT, IL2RA, HLA-DRB1, CSF2
12extracellular matrix organizationGO:0301987.9TGFB1, COL7A1, COL17A1, ITGB4, DST, MATN1

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

idNameGO IDScoreTop Affiliating Genes
1interleukin-2 bindingGO:0199769.8IL2RB, IL2RA
2interleukin-2 receptor activityGO:0049119.5IL2RB, IL2RA

Products for genes affiliated with Epidermolysis Bullosa Acquisita

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  • Lysates
  • Antibodies

Sources for Epidermolysis Bullosa Acquisita

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