EBA
MCID: EPD006
MIFTS: 61

Epidermolysis Bullosa Acquisita (EBA) malady

Skin diseases category

Summaries for Epidermolysis Bullosa Acquisita

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Epidermolysis bullosa acquisita (eba) 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. some affected people have other health problems such as crohn's disease, systemic lupus erythematosus, amyloidosis, or multiple myeloma. eba is not inherited and usually occurs in adulthood. treatment aims to protect the skin, stop the formation of blisters, and promote healing. immunosuppressive drugs may be used to reduce the body's autoimmune response. last updated: 2/27/2014

MalaCards: Epidermolysis Bullosa Acquisita, also known as acquired epidermolysis bullosa, is related to epidermolysis bullosa and bullous pemphigoid, and has symptoms including acute abdominal pain/colic, intestinal/colonic anomaly and enanthema/aphtosa/aphta/leukoplakia. An important gene associated with Epidermolysis Bullosa Acquisita is LAD1 (ladinin 1), and among its related pathways are Rheumatoid arthritis and Cytokines and Inflammatory Response. The compounds norepinephrine and mycophenolate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and colon, and related mouse phenotypes are renal/urinary system and craniofacial.

Wikipedia:63 Epidermolysis bullosa acquisita is a chronic subepidermal blistering disease associated with... more...

Aliases & Classifications for Epidermolysis Bullosa Acquisita

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
epidermolysis bullosa acquisita:
Inheritance: Sporadic; Age of onset: Adulthood


Aliases & Descriptions:

epidermolysis bullosa acquisita 8 42 10 44 48 60
acquired epidermolysis bullosa 8 42 48
eb acquisita 42
eba 42


External Ids:

Disease Ontology8 DOID:4313
MeSH34 D016107
NCIt39 C84690
SNOMED-CT56 2772003, 200911009
ICD10 via Orphanet26 L12.3
SNOMED-CT via Orphanet57 2772003
ICD1025 L12.3

Related Diseases for Epidermolysis Bullosa Acquisita

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Epidermolysis Bullosa Acquisita via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 150)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa32.3COL7A1, COL17A1, ITGB4, DST, LAMA3, LAMC2
2bullous pemphigoid31.5DST, COL7A1, COL17A1
3lupus erythematosus31.2CD79A
4cicatricial pemphigoid31.2COL7A1, COL17A1
5systemic lupus erythematosus31.1HLA-DRB1, CD79A, IL2RA, IL2RB, SERPINH1
6amyloidosis30.9CD79A
7inflammatory bowel disease30.8TGFB1, CD79A
8psoriasis30.7HLA-DRB1, DST, IL2RA
9relapsing polychondritis30.6MATN1
10dermatitis30.6CSF2, DSG3, DSG1, CD79A
11ulcerative colitis30.6HLA-DRB1, CD79A, IL2RA, LAMC2
12pancreatitis30.4TGFB1
13conjunctivitis30.4CD79A
14dermatitis herpetiformis30.4IL2RB, CD79A
15nephrotic syndrome30.4IL2RA, CD79A
16hepatitis c30.4HLA-DRB1
17graves' disease30.4IL2RA, HLA-DRB1
18eosinophilia30.4CSF2, CD79A, IL2RA, IL2RB
19pneumonia30.4TGFB1, IL2RB, CD79A, CSF2
20hepatitis30.4TGFB1, IL2RB, HLA-DRB1
21connective tissue disease30.4HLA-DRB1, CD79A, IL2RA, TGFB1
22graft versus host disease30.4CSF2, HLA-DRB1, IL2RA, IL2RB
23squamous cell carcinoma30.4COL7A1, COL17A1, ITGB4, DSG3, DST, DSG1
24crohn's disease10.8
25collagen disease10.6
26esophagitis10.6
27laryngitis10.5
28multiple myeloma10.5
29myeloma10.5
30cryoglobulinemia10.3
31pulmonary tuberculosis10.3
32lung clear cell carcinoma10.3
33porphyria cutanea tarda10.3
34cutaneous lupus erythematosus10.3
35factor viii deficiency10.3
36epidermolysis bullosa dystrophica10.3
37vitiligo10.3
38chronic conjunctivitis10.3
39colonic disease10.3
40cystitis10.3
41pancreatic cancer10.3
42periodontitis10.3
43porphyria10.3
44tuberculosis10.3
45ocular cicatricial pemphigoid10.0ITGB4
46cervical intraepithelial neoplasia10.0ITGB4
47purpura10.0CD79A
48interstitial lung disease10.0CD79A
49aspergillosis10.0CD79A
50rubella10.0CD79A

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



Diseases related to epidermolysis bullosa acquisita

Clinical Features for Epidermolysis Bullosa Acquisita

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48Orphanet
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Symptoms:

48 (show all 11)
  • acute abdominal pain/colic
  • intestinal/colonic anomaly
  • 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
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment

Drugs & Therapeutics for Epidermolysis Bullosa Acquisita

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

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Anatomical Context for Epidermolysis Bullosa Acquisita

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32MalaCards
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MalaCards organs/tissues related to Epidermolysis Bullosa Acquisita:

32
Skin, Eye, Colon, Lymph node, B cells, Testes, T cells, Lung, Bone, Bone marrow

Animal Models for Epidermolysis Bullosa Acquisita or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Epidermolysis Bullosa Acquisita:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.8LAMC2, DST, ITGB4
2MP:00053827.6DSG3, CSF2, COL7A1, ITGB4, LAMA3, LAMC2
3MP:00053817.4SERPINH1, TGFB1, COL7A1, IL2RA, DST, DSG3
4MP:00107717.2DST, LAMC2, LAMA3, DSG3, IL2RB, ITGB4
5MP:00053876.8COL17A1, ITGB4, DSG3, CD79A, IL2RA, IL2RB
6MP:00053786.5IL2RA, IL2RB, LAMA3, SERPINH1, CSF2, DST
7MP:00107686.4ITGB4, CSF2, COL17A1, COL7A1, IL2RB, DSG3

Publications for Epidermolysis Bullosa Acquisita

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Sources:
50PubMed
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Articles related to Epidermolysis Bullosa Acquisita:

(show top 50)    (show all 348)
idTitleAuthorsYear
1
Clinical presentation, pathogenesis, diagnosis, and treatment of epidermolysis bullosa acquisita. (23956869)
2013
2
Epidermolysis bullosa acquisita and inflammatory bowel disease: a review of the literature. (23517353)
2013
3
Images in clinical medicine. Epidermolysis bullosa acquisita. (23534583)
2013
4
Retrospective study of the clinical, histologic, and immunologic features of epidermolysis bullosa acquisita in 9 patients. (23895729)
2013
5
Methylprednisolone blocks autoantibody-induced tissue damage in experimental models of bullous pemphigoid and epidermolysis bullosa acquisita through inhibition of neutrophil activation. (23448878)
2013
6
Epidermolysis bullosa acquisita: autoimmunity to anchoring fibril collagen. (21955050)
2012
7
Diagnosis and clinical features of epidermolysis bullosa acquisita. (21605816)
2011
8
Development of NC1 and NC2 domains of type VII collagen ELISA for the diagnosis and analysis of the time course of epidermolysis bullosa acquisita patients. (21482078)
2011
9
Generation of antibodies of distinct subclasses and specificity is linked to H2s in an active mouse model of epidermolysis bullosa acquisita. (20720563)
2011
10
Epidermolysis bullosa acquisita: a retrospective clinical analysis of 30 cases. (21394418)
2011
11
Congenital epidermolysis bullosa acquisita: vertical transfer of maternal autoantibody from mother to infant. (21079052)
2011
12
Epidermolysis bullosa acquisita: what's new? (20507385)
2010
13
Usefulness of collagen IV immunostaining for diagnosis of canine epidermolysis bullosa acquisita. (20375426)
2010
14
Clearance rates of circulating and tissue-bound autoantibodies to type VII collagen in experimental epidermolysis bullosa acquisita. (20222918)
2010
15
Cross-reactivity of autoantibodies from patients with epidermolysis bullosa acquisita with murine collagen VII. (20084423)
2010
16
Autoimmunity to type VII collagen: epidermolysis bullosa acquisita. (18460887)
2008
17
Neonatal Fc receptor deficiency protects from tissue injury in experimental epidermolysis bullosa acquisita. (18542899)
2008
18
Fatal Pseudomona pneumonia following rituximab therapy in a patient with epidermolysis bullosa acquisita. (17714160)
2007
19
Epidermolysis bullosa acquisita following bullous pemphigoid, successfully treated with the anti-CD20 monoclonal antibody rituximab. (17823525)
2007
20
The alternative pathway of complement activation is critical for blister induction in experimental epidermolysis bullosa acquisita. (17475881)
2007
21
Erythema gyratum repens-like eruption in a patient with epidermolysis bullosa acquisita associated with ulcerative colitis. (17263799)
2007
22
Epidermolysis bullosa acquisita: diagnosis by fluorescence overlay antigen mapping and clinical response to high-dose intravenous immunoglobulin. (16309488)
2006
23
Evidence that anti-type VII collagen antibodies are pathogenic and responsible for the clinical, histological, and immunological features of epidermolysis bullosa acquisita. (15854036)
2005
24
A case of mixed bullous disease of epidermolysis bullosa acquisita and linear IgA bullous dermatosis. (16088162)
2005
25
A patient with both bullous pemphigoid and epidermolysis bullosa acquisita: an example of intermolecular epitope spreading. (15243536)
2004
26
Clinicopathological case 1: mucous membrane pemphigoid, epidermolysis bullosa acquisita and linear immunoglobulin A disease. (12823323)
2003
27
Epidermolysis bullosa acquisita in an 8-year-old girl. (12220292)
2002
28
Childhood epidermolysis bullosa acquisita: a novel variant with reactivity to all three structural domains of type VII collagen. (12207608)
2002
29
IgA-mediated epidermolysis bullosa acquisita: two cases and review of the literature. (12451379)
2002
30
Treatment of epidermolysis bullosa acquisita with the humanized anti-Tac mAb daclizumab. (11683573)
2001
31
'Suction split' as a routine method to differentiate epidermolysis bullosa acquisita from bullous pemphigoid. (9643329)
1998
32
Application of confocal laser scanning microscopy to differential diagnosis of bullous pemphigoid and epidermolysis bullosa acquisita. (9640362)
1998
33
Linear IgA disease with clinical and immunopathological features of epidermolysis bullosa acquisita. (9263315)
1997
34
Epidermolysis bullosa acquisita. (7999613)
1994
35
Epidermolysis bullosa acquisita: efficacy of high-dose intravenous immunoglobulins. (8340508)
1993
36
Clearing of epidermolysis bullosa acquisita with cyclosporine. (2312839)
1990
37
Epidermolysis bullosa acquisita in childhood. Differentiation from hereditary epidermolysis bullosa. (2662910)
1989
38
Epidermolysis bullosa acquisita antigen is the globular carboxyl terminus of type VII procollagen. (3278005)
1988
39
Epidermolysis bullosa acquisita and Crohn's disease. A case report with immunological and electron microscopic studies. (2897835)
1988
40
Cyclosporine A in epidermolysis bullosa acquisita. (3429719)
1987
41
Epidermolysis bullosa acquisita antigen, a new major component of cutaneous basement membrane, is a glycoprotein with collagenous domains. (3519786)
1986
42
Organ-specific, phylogenetic, and ontogenetic distribution of the epidermolysis bullosa acquisita antigen. (3745957)
1986
43
Epidermolysis bullosa acquisita in a patient with multiple endocrinopathies syndrome. (3947126)
1986
44
Epidermolysis bullosa: variability of expression of cicatricial pemphigoid, bullous pemphigoid, and epidermolysis bullosa acquisita antigens in clinically uninvolved skin. (3891876)
1985
45
Cicatricial pemphigoid, bullous pemphigoid, and epidermolysis bullosa acquisita antigens: differences in organ and species specificities and localization in chemically-separated human skin of three basement membrane antigens. (3902344)
1985
46
Epidermolysis bullosa acquisita with pulmonary tuberculosis: a case report. (6883798)
1983
47
Epidermolysis bullosa acquisita diagnosed by immunoelectron microscopy. (6366010)
1983
48
Bullous amyloidosis vs epidermolysis bullosa acquisita. (7001078)
1981
49
Epidermolysis bullosa acquisita. Immunofluorescence, electron microscopic and immunoelectron microscopic studies in four patients. (6992836)
1980
50
Epidermolysis bullosa acquisita--a sign of cicatricial pemphigoid? (389273)
1979

Genetic Variations for Epidermolysis Bullosa Acquisita

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Expression for genes affiliated with Epidermolysis Bullosa Acquisita

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
29KEGG, 37NCBI BioSystems Database, 53Reactome, 52R&D Systems, 12EMD Millipore, 51QIAGEN
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Pathways related to Epidermolysis Bullosa Acquisita according to GeneCards/GeneDecks:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1CSF2
210.0HLA-DRB1
3
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10.0HLA-DRB1
49.8COL7A1, LAMC2, LAMA3
59.6IL2RB, LAMC2, IL2RA
6
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9.4CSF2, IL2RB, IL2RA
7
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9.4IL2RB, CSF2, IL2RA
89.4IL2RA, HLA-DRB1, IL2RB
9
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9.4HLA-DRB1, IL2RA, IL2RB
10
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9.4DST, LAMA3, COL17A1, ITGB4, LAMC2
119.4DST, LAMC2, LAMA3, ITGB4, COL17A1
129.4DST, ITGB4, COL17A1, LAMC2, LAMA3
13
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9.3LAMC2, LAMA3, ITGB4, COL17A1, COL7A1
149.3LAMA3, TGFB1, CSF2
159.3DSG3, DSG1
169.3HLA-DRB1, CSF2, IL2RA
17
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9.2ITGB4, MATN1, LAMC2, LAMA3
189.2LAMC2, LAMA3, IL2RB, ITGB4, IL2RA
199.2IL2RA, TGFB1, HLA-DRB1
20
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9.1IL2RA, CD79A, HLA-DRB1, IL2RB
219.1TGFB1, CSF2, LAMC2, LAMA3
22
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9.0CSF2, HLA-DRB1, IL2RB, IL2RA
23
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8.9IL2RB, COL7A1, CSF2, ITGB4, LAMA3, LAMC2
24
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8.7IL2RA, TGFB1, CD79A, ITGB4, HLA-DRB1
25
Hide members
8.7IL2RA, TGFB1, CSF2, ITGB4, IL2RB
268.4HLA-DRB1, IL2RA, CSF2, TGFB1, IL2RB
27
Hide members
8.2COL7A1, COL17A1, ITGB4, CD79A, IL2RA, LAMA3
28
Hide members
8.1LAMA3, COL7A1, COL17A1, ITGB4, DST, MATN1

Compounds for genes affiliated with Epidermolysis Bullosa Acquisita

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

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1norepinephrine44 11 2412.3IL2RB
2mycophenolate4410.3IL2RA, IL2RB
3lentinan4410.2IL2RA, IL2RB
4mizoribine4410.2IL2RA, CD79A
5thymoglobulin4410.2IL2RA, IL2RB
6denileukin diftitox44 49 1112.2IL2RB, IL2RA
7gluten4410.1IL2RA, CD79A
8Aldesleukin1110.1IL2RB, IL2RA
9pentoxifylline44 1111.1CSF2, IL2RB
10kalinin4410.0ITGB4, DST, LAMA3, LAMC2
11con a4410.0IL2RB, IL2RA, CD79A
12cycloheximide4410.0IL2RB, DST, COL17A1
13mycophenolate mofetil44 49 1112.0CD79A, IL2RA, IL2RB
14erythromycin44 49 2 1113.0TGFB1, IL2RA
15pge2449.9TGFB1, CSF2
16delta9-tetrahydrocannabinol449.9IL2RB, IL2RA
17gold449.9LAMC2, IL2RB, DST, COL17A1
18azithromycin44 1110.8CD79A, CSF2
19ifn-alpha449.7IL2RB, IL2RA, CSF2
20pmma449.7TGFB1, CD79A, CSF2
21betacarotene449.7CD79A, IL2RA, TGFB1
22theophylline44 28 11 2412.6CD79A, IL2RA, TGFB1
23okt3449.6CSF2, CD79A, IL2RA, IL2RB
24neopterin449.6IL2RB, IL2RA, CD79A, CSF2
25procollagen449.6TGFB1, MATN1
26rituximab44 49 1111.5CSF2, DSG1, CD79A, IL2RA
27azathioprine44 49 2 1112.5IL2RB, IL2RA, CD79A
28alginate449.5MATN1, CD79A, TGFB1
29toxin a449.5DSG1, DSG3
30methacholine44 1110.4CSF2, CD79A, IL2RB, TGFB1
31tacrolimus44 49 1111.4CD79A, IL2RA, IL2RB, TGFB1
32bleomycin44 1110.4CSF2, IL2RA, TGFB1
33il 10449.3TGFB1, IL2RB, IL2RA, CSF2
34nifedipine44 49 28 1112.3CSF2, IL2RA, IL2RB, TGFB1
3512-o-tetradecanoylphorbol 13-acetate449.2CSF2, DST, IL2RB, TGFB1
36rantes449.2CSF2, IL2RA, IL2RB, TGFB1
37prednisolone44 28 1111.2IL2RB, IL2RA, CD79A, DSG3
38vitamin d449.1CSF2, CD79A, IL2RA, TGFB1
39aspirin44 49 28 2412.1CSF2, CD79A, IL2RA, IL2RB, TGFB1
40polysaccharide449.1CSF2, CD79A, IL2RA, IL2RB, TGFB1
41histamine44 28 2411.1CSF2, CD79A, IL2RA, IL2RB, TGFB1
42methotrexate44 49 1111.0HLA-DRB1, CD79A, IL2RA, IL2RB, TGFB1
431,25 dihydroxy vitamin d3448.9CSF2, IL2RB, TGFB1
44cyclosporin a44 28 5910.8CSF2, CD79A, IL2RA, IL2RB, SERPINH1, TGFB1
45vegf448.7CSF2, CD79A, IL2RA, IL2RB, SERPINH1, TGFB1
46acetylcholine44 49 28 11 2412.7DSG3, DSG1, CD79A, IL2RA
47ivig448.5FCGRT, IL2RB, CD79A, DSG1, DSG3, CSF2
48retinoic acid44 249.2CSF2, ITGB4, DSG1, MATN1, CD79A, IL2RB
49serine448.2COL7A1, COL17A1, ITGB4, DSG3, DSG1, IL2RB
50tyrosine447.8COL17A1, CSF2, HLA-DRB1, ITGB4, DSG3, IL2RA

GO Terms for genes affiliated with Epidermolysis Bullosa Acquisita

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16Gene Ontology
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Cellular components related to Epidermolysis Bullosa Acquisita according to GeneCards/GeneDecks:

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

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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