MCID: EPD006
MIFTS: 49

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 76 53 59 55 44 15 73
Acquired Epidermolysis Bullosa 12 53 59
Eb Acquisita 53
Eba 53

Characteristics:

Orphanet epidemiological data:

59
acquired epidermolysis bullosa
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:4313
ICD10 33 L12.3 L12.30
MeSH 44 D016107
NCIt 50 C84690
SNOMED-CT 68 200911009 2772003
Orphanet 59 ORPHA46487
ICD10 via Orphanet 34 L12.3
UMLS via Orphanet 74 C0079293
UMLS 73 C0079293

Summaries for Epidermolysis Bullosa Acquisita

NIH Rare Diseases : 53 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.

MalaCards based summary : Epidermolysis Bullosa Acquisita, also known as acquired epidermolysis bullosa, is related to epidermolysis bullosa dystrophica and epidermolysis bullosa. An important gene associated with Epidermolysis Bullosa Acquisita is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Cell junction organization. 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 diabetes mellitus and hyperpigmentation of the skin

Wikipedia : 76 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 93)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica 30.1 COL7A1 DST
2 epidermolysis bullosa 29.7 COL17A1 COL7A1 DST ITGB4 LAMA3
3 bullous pemphigoid 28.5 CD79A COL17A1 DST ITGB4 LAMA3
4 linear iga disease 28.4 CD79A COL17A1 DST ITGB4
5 cicatricial pemphigoid 28.2 CD79A COL17A1 DST ITGB4 LAMA3
6 lupus erythematosus 10.5
7 crohn's disease 10.5
8 systemic lupus erythematosus 10.5
9 esophagitis 10.4
10 psoriasis 10.4
11 anti-p200 pemphigoid 10.4
12 amyloidosis 10.3
13 myeloma, multiple 10.3
14 psoriasis 2 10.3
15 psoriasis 7 10.3
16 psoriasis 11 10.3
17 psoriasis 13 10.3
18 inflammatory bowel disease 10.3
19 laryngitis 10.3
20 aplasia cutis congenita 10.2 COL7A1 ITGB4
21 monoclonal paraproteinemia 10.2 CD79A HSP90AA1
22 autoimmune disease 10.2
23 porphyria cutanea tarda 10.2
24 autoimmune disease 1 10.2
25 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 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 orthostatic proteinuria 10.2 CD79A HSP90AA1
35 hypersensitivity vasculitis 10.2 CD79A HSP90AA1
36 hypersensitivity reaction type iii disease 10.1 CD79A HSP90AA1
37 immunoglobulin g deficiency 10.1 CD79A FCGRT
38 henoch-schoenlein purpura 10.1 CD79A HSP90AA1
39 cryoglobulinemia, familial mixed 10.0
40 factor viii deficiency 10.0
41 pancreatic cancer 10.0
42 wilson disease 10.0
43 hemophilia a 10.0
44 dermatitis herpetiformis, familial 10.0
45 graft-versus-host disease 10.0
46 alopecia 10.0
47 hepatitis 10.0
48 cutaneous lupus erythematosus 10.0
49 lymphoma 10.0
50 nephrotic syndrome 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:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
2 hyperpigmentation of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000953
3 atypical scarring of skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000987
4 pruritus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000989
5 milia 59 32 frequent (33%) Frequent (79-30%) HP:0001056
6 abnormality of the hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0001595
7 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
8 inflammation of the large intestine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002037
9 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
10 nail dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008404

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.6 COL7A1 LAMA3
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 COL7A1 LAMA3 RORA CD79A
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 Register of Autoimmune Bullous Dermatoses Completed NCT02899923
4 Genetic Susceptibility and Influence of the Microbiomae in Bullous Pemphigoid Recruiting NCT02874079 Not Applicable
5 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:

41
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 423)
# Title Authors Year
1
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
2
Orf - a potential trigger for self-limiting epidermolysis bullosa acquisita-like blistering. ( 29441548 )
2018
3
Whole-Genome Expression Profiling in Skin Reveals SYK As a Key Regulator of Inflammation in Experimental Epidermolysis Bullosa Acquisita. ( 29497423 )
2018
4
Case Report of a 21-Year-Old Man With Epidermolysis Bullosa Acquisita. ( 29865955 )
2018
5
Response to 'Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita: a multicentre analysis'. ( 28977674 )
2018
6
Epidermal aspects of type VII collagen: Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita. ( 29352483 )
2018
7
Discrepancies in the evaluation of incapacity for work in a patient with epidermolysis bullosa acquisita between public pension fund and occupational medicine expert raise the issue of competencies. ( 29604201 )
2018
8
Neutrophil Adhesion Is a Prerequisite for Antibody-Mediated Proteolytic Tissue Damage in Experimental Models of Epidermolysis Bullosa Acquisita. ( 29559343 )
2018
9
CCL3/MIP1I+ represents a biomarker but not a mandatory cytokine for disease development in experimental epidermolysis bullosa acquisita. ( 28711238 )
2017
10
International Bullous Diseases Group - Consensus on Diagnostic Criteria for Epidermolysis Bullosa Acquisita. ( 29165796 )
2017
11
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
12
Epidermolysis Bullosa Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations. ( 29182795 )
2017
13
Signalling and targeted therapy of inflammatory cells in epidermolysis bullosa acquisita. ( 28266741 )
2017
14
Acute renal failure in a patient with epidermolysis bullosa acquisita. ( 29267434 )
2017
15
The Leukotriene B4 and its Receptor BLT1A ActA as Critical Drivers of Neutrophil Recruitment in Murine Bullous Pemphigoid-Like Epidermolysis Bullosa Acquisita. ( 28108297 )
2017
16
Serration pattern analysis for differentiating epidermolysis bullosa acquisita from other pemphigoid diseases. ( 29154993 )
2017
17
Distinguishing Epidermolysis Bullosa Acquisita From Bullous Pemphigoid Without Direct Immunofluorescence. ( 28719980 )
2017
18
A rare occurrence of epidermolysis bullosa acquisita in a patient with retroviral disease. ( 28632473 )
2017
19
Human Orf complicated by Epidermolysis Bullosa Acquisita. ( 28338219 )
2017
20
Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita - a multicenter analysis. ( 28703393 )
2017
21
Calcitriol treatment ameliorates inflammation and blistering in mouse models of epidermolysis bullosa acquisita. ( 28942362 )
2017
22
CD11b-deficient mice exhibit an increased severity in the late phase of antibody transfer-induced experimental epidermolysis bullosa acquisita. ( 28857285 )
2017
23
Case of epidermolysis bullosa acquisita with concomitant anti-laminin-332 antibodies. ( 29205468 )
2017
24
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
25
The Syk Tyrosine Kinase Is Required for Skin Inflammation in an InA Vivo Mouse Model ofA Epidermolysis Bullosa Acquisita. ( 28576735 )
2017
26
Evidence for a contributory role of a xenogeneic immune response in experimental epidermolysis bullosa acquisita. ( 28887841 )
2017
27
Epidermolysis bullosa acquisita. ( 29447655 )
2017
28
Efficacy of intravenous immunoglobulins for the treatment of mucous membrane pemphigoid-like epidermolysis bullosa acquisita. ( 29084648 )
2017
29
Coexistence of psoriasis and epidermolysis bullosa acquisita: Evaluation of the integrity of the basement membrane. ( 28425108 )
2017
30
Epidermolysis Bullosa Acquisita: From Pathophysiology to Novel Therapeutic Options. ( 26763420 )
2016
31
T cells mediate autoantibody-induced cutaneous inflammation and blistering in epidermolysis bullosa acquisita. ( 27917914 )
2016
32
Clinical and immunological studies for 105 Japanese seropositive patients of epidermolysis bullosa acquisita examined at Kurume University. ( 27247994 )
2016
33
Cytoskeletal Regulation of Inflammation and Its Impact on Skin Blistering Disease Epidermolysis Bullosa Acquisita. ( 27420054 )
2016
34
Discovering potential drug-targets for personalized treatment of autoimmune disorders - what we learn from epidermolysis bullosa acquisita. ( 26838687 )
2016
35
Childhood Epidermolysis Bullosa Acquisita: Confirmation of Diagnosis by Skin Deficient in Type VII Collagen, Enzyme-linked Immunosorbent Assay, and Immunoblotting. ( 27293257 )
2016
36
Myeloid-related proteins-8 and -14 are expressed but dispensable in the pathogenesis of experimental epidermolysis bullosa acquisita and bullous pemphigoid. ( 26692467 )
2016
37
Coexistence of acquired hemophilia A and epidermolysis bullosa acquisita: Two case reports and published work review. ( 27511892 )
2016
38
Clinical features and diagnosis of epidermolysis bullosa acquisita. ( 27580464 )
2016
39
The use of Biochip immunofluorescence microscopy for the serological diagnosis of epidermolysis bullosa acquisita. ( 26895535 )
2016
40
Epidermolysis bullosa acquisita associated with dysphagia and stricture of esophagus. ( 27643544 )
2016
41
An autoimmune bullous dermatosis with clinical, histopathological, and immunological features of bullous pemphigoid and epidermolysis bullosa acquisita in an adult. ( 26989994 )
2016
42
Reduced skin blistering in experimental epidermolysis bullosa acquisita after anti-TNF treatment. ( 27999842 )
2016
43
PDE4 Inhibition as Potential Treatment ofA Epidermolysis Bullosa Acquisita. ( 27388992 )
2016
44
Oral colchicine monotherapy for epidermolysis bullosa acquisita: Mechanism of action and efficacy. ( 27153772 )
2016
45
Comparison of 3 type VII collagen (C7) assays for serologic diagnosis of epidermolysis bullosa acquisita (EBA). ( 26947449 )
2016
46
Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa. ( 26763454 )
2016
47
Long-term results of rituximab-intravenous immunoglobulin combination therapy in patients with epidermolysis bullosa acquisita resistant to conventional therapy. ( 27161164 )
2016
48
Childhood epidermolysis bullosa acquisita during squaric acid dibutylester (SADBE) immunotherapy for alopecia areata. ( 27208509 )
2016
49
Epidermolysis bullosa acquisita in a patient with psoriasis vulgaris. ( 26243636 )
2015
50
The retinoid-related orphan receptor alpha is essential for the end-stage effector phase of experimental epidermolysis bullosa acquisita. ( 25953430 )
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
12.44 CD79A COL17A1 COL7A1 ITGB4 LAMA3
2
Show member pathways
12.18 COL17A1 DST ITGB4 LAMA3
3
Show member pathways
12.08 COL17A1 COL7A1 DST ITGB4 LAMA3
4
Show member pathways
11.68 COL17A1 COL7A1 DST ITGB4 LAMA3
5
Show member pathways
11.23 ITGB4 LAMA3
6 10.9 ITGB4 LAMA3
7 10.81 COL17A1 ITGB4

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 basement membrane GO:0005604 9.26 COL17A1 COL7A1 DST LAMA3
2 cell leading edge GO:0031252 9.16 DST ITGB4
3 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 9.62 COL7A1 DST ITGB4 LAMA3
2 extracellular matrix organization GO:0030198 9.43 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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