MCID: EPD006
MIFTS: 50

Epidermolysis Bullosa Acquisita

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Acquisita

MalaCards integrated aliases for Epidermolysis Bullosa Acquisita:

Name: Epidermolysis Bullosa Acquisita 12 72 49 55 51 41 14 69
Acquired Epidermolysis Bullosa 12 49 55
Eb Acquisita 49
Eba 49

Characteristics:

Orphanet epidemiological data:

55
acquired epidermolysis bullosa
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:4313
ICD10 32 L12.3 L12.30
MeSH 41 D016107
NCIt 46 C84690
SNOMED-CT 64 200911009 2772003
Orphanet 55 ORPHA46487
UMLS via Orphanet 70 C0079293
ICD10 via Orphanet 33 L12.3
UMLS 69 C0079293

Summaries for Epidermolysis Bullosa Acquisita

NIH Rare Diseases : 49 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 based summary : Epidermolysis Bullosa Acquisita, also known as acquired epidermolysis bullosa, is related to epidermolysis bullosa and epidermolysis bullosa dystrophica, and has symptoms including diabetes mellitus, hyperpigmentation of the skin and atypical scarring of skin. An important gene associated with Epidermolysis Bullosa Acquisita is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Methoxsalen and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and neutrophil, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 72 Epidermolysis bullosa acquisita is a chronic subepidermal blistering disease associated with... more...

Related Diseases for Epidermolysis Bullosa Acquisita

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

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa 30.6 COL17A1 COL7A1 DST ITGB4 LAMA3
2 epidermolysis bullosa dystrophica 30.1 COL7A1 DST
3 bullous pemphigoid 29.5 CD79A COL17A1 DST ITGB4 LAMA3
4 cicatricial pemphigoid 29.2 CD79A COL17A1 DST ITGB4 LAMA3
5 linear iga disease 28.8 CD79A COL17A1 DST ITGB4
6 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.6
7 lupus erythematosus 10.5
8 crohn's disease 10.5
9 systemic lupus erythematosus 10.5
10 esophagitis 10.4
11 pustulosis of palm and sole 10.4
12 psoriasis 10.4
13 anti-p200 pemphigoid 10.4
14 amyloidosis 10.3
15 myeloma, multiple 10.3
16 psoriasis 2 10.3
17 psoriasis 7 10.3
18 psoriasis 11 10.3
19 psoriasis 13 10.3
20 inflammatory bowel disease 10.3
21 laryngitis 10.3
22 aplasia cutis congenita 10.2 COL7A1 ITGB4
23 autoimmune disease 10.2
24 porphyria cutanea tarda 10.2
25 autoimmune disease 1 10.2
26 ulcerative colitis 10.2
27 colitis 10.2
28 mucositis 10.2
29 porphyria 10.2
30 relapsing polychondritis 10.2
31 dermatitis 10.2
32 dominant dystrophic epidermolysis bullosa 10.2
33 dysphagia 10.2
34 monoclonal paraproteinemia 10.1 CD79A HSP90AA1
35 hypersensitivity vasculitis 10.1 CD79A HSP90AA1
36 hypersensitivity reaction type iii disease 10.1 CD79A HSP90AA1
37 henoch-schoenlein purpura 10.1 CD79A HSP90AA1
38 immunoglobulin g deficiency 10.0 CD79A FCGRT
39 blood group, i system 10.0
40 cryoglobulinemia, familial mixed 10.0
41 factor viii deficiency 10.0
42 pancreatic cancer 10.0
43 popliteal pterygium syndrome, lethal type 10.0
44 wilson disease 10.0
45 hemophilia a 10.0
46 dermatitis herpetiformis, familial 10.0
47 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
48 mycobacterium tuberculosis 1 10.0
49 graft-versus-host disease 10.0
50 alopecia 10.0

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



Diseases related to Epidermolysis Bullosa Acquisita

Symptoms & Phenotypes for Epidermolysis Bullosa Acquisita

Human phenotypes related to Epidermolysis Bullosa Acquisita:

55 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000819
2 hyperpigmentation of the skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000953
3 atypical scarring of skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000987
4 pruritus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000989
5 milia 55 31 frequent (33%) Frequent (79-30%) HP:0001056
6 abnormality of the hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0001595
7 abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002027
8 inflammation of the large intestine 55 31 occasional (7.5%) Occasional (29-5%) HP:0002037
9 abnormal blistering of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0008066
10 nail dystrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0008404

GenomeRNAi Phenotypes related to Epidermolysis Bullosa Acquisita according to GeneCards Suite gene sharing:

25 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.6 LAMA3 COL7A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.6 RORA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.6 RORA
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.6 LAMA3 CD79A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.6 LAMA3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.6 COL7A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.6 LAMA3 RORA CD79A COL7A1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.6 COL7A1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.6 COL7A1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.6 RORA
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.6 LAMA3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.6 COL7A1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.6 COL7A1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.6 LAMA3

Drugs & Therapeutics for Epidermolysis Bullosa Acquisita

Drugs for Epidermolysis Bullosa Acquisita (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methoxsalen Approved Phase 2 298-81-7 4114
2 Dermatologic Agents Phase 2
3 Photosensitizing Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita Completed NCT00004359 Phase 2 methoxsalen
2 Establishment of the National Epidermolysis Bullosa Registry Completed NCT00004761
3 Genetic Susceptibility and Influence of the Microbiomae in Bullous Pemphigoid Recruiting NCT02874079
4 Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases Recruiting NCT01952275

Search NIH Clinical Center for Epidermolysis Bullosa Acquisita

Cochrane evidence based reviews: epidermolysis bullosa acquisita

Genetic Tests for Epidermolysis Bullosa Acquisita

Anatomical Context for Epidermolysis Bullosa Acquisita

MalaCards organs/tissues related to Epidermolysis Bullosa Acquisita:

38
Skin, Eye, Neutrophil, T Cells, Lymph Node, B Cells, Testes

Publications for Epidermolysis Bullosa Acquisita

Articles related to Epidermolysis Bullosa Acquisita:

(show top 50) (show all 419)
# Title Authors Year
1
Orf - a potential trigger for self-limiting epidermolysis bullosa acquisita-like blistering. ( 29441548 )
2018
2
Epidermal aspects of type VII collagen: Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita. ( 29352483 )
2018
3
Response to 'Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita: a multicentre analysis'. ( 28977674 )
2018
4
Response to 'Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita: a multicentre analysis': reply from authors. ( 29322498 )
2018
5
Human Orf complicated by Epidermolysis Bullosa Acquisita. ( 28338219 )
2017
6
Signalling and targeted therapy of inflammatory cells in epidermolysis bullosa acquisita. ( 28266741 )
2017
7
A rare occurrence of epidermolysis bullosa acquisita in a patient with retroviral disease. ( 28632473 )
2017
8
Epidermolysis Bullosa Acquisita (Brunsting-Perry Pemphigoid Variant) Localized to the Face and Diagnosed With Antigen Identification Using Skin Deficient in Type VII Collagen. ( 28452792 )
2017
9
Efficacy of intravenous immunoglobulins for the treatment of mucous membrane pemphigoid-like epidermolysis bullosa acquisita. ( 29084648 )
2017
10
Epidermolysis Bullosa Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations. ( 29182795 )
2017
11
Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita - a multicenter analysis. ( 28703393 )
2017
12
Distinguishing Epidermolysis Bullosa Acquisita From Bullous Pemphigoid Without Direct Immunofluorescence. ( 28719980 )
2017
13
The Syk Tyrosine Kinase Is Required for Skin Inflammation in an InA Vivo Mouse Model ofA Epidermolysis Bullosa Acquisita. ( 28576735 )
2017
14
Case of epidermolysis bullosa acquisita with concomitant anti-laminin-332 antibodies. ( 29205468 )
2017
15
Evidence for a contributory role of a xenogeneic immune response in experimental epidermolysis bullosa acquisita. ( 28887841 )
2017
16
CCL3/MIP1I+ represents a biomarker but not a mandatory cytokine for disease development in experimental epidermolysis bullosa acquisita. ( 28711238 )
2017
17
Epidermolysis bullosa acquisita. ( 29447655 )
2017
18
Calcitriol treatment ameliorates inflammation and blistering in mouse models of epidermolysis bullosa acquisita. ( 28942362 )
2017
19
CD11b-deficient mice exhibit an increased severity in the late phase of antibody transfer-induced experimental epidermolysis bullosa acquisita. ( 28857285 )
2017
20
Acute renal failure in a patient with epidermolysis bullosa acquisita. ( 29267434 )
2017
21
Serration pattern analysis for differentiating epidermolysis bullosa acquisita from other pemphigoid diseases. ( 29154993 )
2017
22
Coexistence of psoriasis and epidermolysis bullosa acquisita: Evaluation of the integrity of the basement membrane. ( 28425108 )
2017
23
Epidermolysis bullosa acquisita and anti-p200 pemphigoid as major subepidermal autoimmune bullous diseases diagnosed by floor binding on indirect immunofluorescence microscopy using human salt-split skin. ( 28749386 )
2017
24
International Bullous Diseases Group - Consensus on Diagnostic Criteria for Epidermolysis Bullosa Acquisita. ( 29165796 )
2017
25
The Leukotriene B4 and its Receptor BLT1A ActA as Critical Drivers of Neutrophil Recruitment in Murine Bullous Pemphigoid-Like Epidermolysis Bullosa Acquisita. ( 28108297 )
2017
26
PDE4 Inhibition as Potential Treatment ofA Epidermolysis Bullosa Acquisita. ( 27388992 )
2016
27
Cytoskeletal Regulation of Inflammation and Its Impact on Skin Blistering Disease Epidermolysis Bullosa Acquisita. ( 27420054 )
2016
28
The use of Biochip immunofluorescence microscopy for the serological diagnosis of epidermolysis bullosa acquisita. ( 26895535 )
2016
29
Myeloid-related proteins-8 and -14 are expressed but dispensable in the pathogenesis of experimental epidermolysis bullosa acquisita and bullous pemphigoid. ( 26692467 )
2016
30
Childhood epidermolysis bullosa acquisita during squaric acid dibutylester (SADBE) immunotherapy for alopecia areata. ( 27208509 )
2016
31
An autoimmune bullous dermatosis with clinical, histopathological, and immunological features of bullous pemphigoid and epidermolysis bullosa acquisita in an adult. ( 26989994 )
2016
32
Epidermolysis bullosa acquisita associated with dysphagia and stricture of esophagus. ( 27643544 )
2016
33
Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa. ( 26763454 )
2016
34
Oral colchicine monotherapy for epidermolysis bullosa acquisita: Mechanism of action and efficacy. ( 27153772 )
2016
35
Coexistence of acquired hemophilia A and epidermolysis bullosa acquisita: Two case reports and published work review. ( 27511892 )
2016
36
Epidermolysis Bullosa Acquisita: From Pathophysiology to Novel Therapeutic Options. ( 26763420 )
2016
37
Reduced skin blistering in experimental epidermolysis bullosa acquisita after anti-TNF treatment. ( 27999842 )
2016
38
Clinical features and diagnosis of epidermolysis bullosa acquisita. ( 27580464 )
2016
39
Comparison of 3 type VII collagen (C7) assays for serologic diagnosis of epidermolysis bullosa acquisita (EBA). ( 26947449 )
2016
40
Discovering potential drug-targets for personalized treatment of autoimmune disorders - what we learn from epidermolysis bullosa acquisita. ( 26838687 )
2016
41
Childhood Epidermolysis Bullosa Acquisita: Confirmation of Diagnosis by Skin Deficient in Type VII Collagen, Enzyme-linked Immunosorbent Assay, and Immunoblotting. ( 27293257 )
2016
42
Long-term results of rituximab-intravenous immunoglobulin combination therapy in patients with epidermolysis bullosa acquisita resistant to conventional therapy. ( 27161164 )
2016
43
T cells mediate autoantibody-induced cutaneous inflammation and blistering in epidermolysis bullosa acquisita. ( 27917914 )
2016
44
Clinical and immunological studies for 105 Japanese seropositive patients of epidermolysis bullosa acquisita examined at Kurume University. ( 27247994 )
2016
45
Childhood Epidermolysis Bullosa Acquisita with Underlying Coeliac Disease. ( 25824338 )
2015
46
Porphyria Cutanea Tarda Masquerading as Epidermolysis Bullosa Acquisita: A Report of Two Cases. ( 26269702 )
2015
47
Inflammatory epidermolysis bullosa acquisita in a 4-year-old girl. ( 26046385 )
2015
48
Immune mechanism-targeted treatment of experimental epidermolysis bullosa acquisita. ( 26471717 )
2015
49
Radiosensitive Hematopoietic Cells Determine the Extent of Skin Inflammation in Experimental Epidermolysis Bullosa Acquisita. ( 26202985 )
2015
50
Erythrodermic Epidermolysis Bullosa Acquisita. ( 25785509 )
2015

Variations for Epidermolysis Bullosa Acquisita

Expression for Epidermolysis Bullosa Acquisita

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

Pathways for Epidermolysis Bullosa Acquisita

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 COL17A1 COL7A1 ITGB4 LAMA3
2
Show member pathways
12.44 CD79A COL17A1 COL7A1 ITGB4 LAMA3
3
Show member pathways
12.18 COL17A1 DST ITGB4 LAMA3
4
Show member pathways
12.08 COL17A1 COL7A1 DST ITGB4 LAMA3
5
Show member pathways
11.73 COL17A1 COL7A1 ITGB4 LAMA3
6
Show member pathways
11.68 COL17A1 COL7A1 DST ITGB4 LAMA3
7
Show member pathways
11.28 ITGB4 LAMA3
8 10.96 ITGB4 LAMA3
9 10.9 COL17A1 ITGB4
10 10.57 COL17A1 COL7A1 ITGB4 LAMA3

GO Terms for Epidermolysis Bullosa Acquisita

Cellular components related to Epidermolysis Bullosa Acquisita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.43 COL17A1 COL7A1 LAMA3
2 basement membrane GO:0005604 9.26 COL17A1 COL7A1 DST LAMA3
3 cell leading edge GO:0031252 9.16 DST ITGB4
4 hemidesmosome GO:0030056 8.8 COL17A1 DST ITGB4

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.56 COL7A1 DST ITGB4 LAMA3
2 extracellular matrix organization GO:0030198 9.5 COL7A1 ITGB4 LAMA3
3 response to wounding GO:0009611 9.4 DST ITGB4
4 endodermal cell differentiation GO:0035987 9.37 COL7A1 LAMA3
5 cell motility GO:0048870 9.16 DST ITGB4
6 epidermis development GO:0008544 9.13 COL17A1 COL7A1 LAMA3
7 hemidesmosome assembly GO:0031581 8.8 COL17A1 ITGB4 LAMA3

Sources for Epidermolysis Bullosa Acquisita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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