MCID: EPD006
MIFTS: 51

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 77 54 60 56 45 15 17 74
Acquired Epidermolysis Bullosa 12 54 60
Eb Acquisita 54
Eba 54

Characteristics:

Orphanet epidemiological data:

60
acquired epidermolysis bullosa
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:4313
MeSH 45 D016107
NCIt 51 C84690
SNOMED-CT 69 2772003
ICD10 34 L12.3 L12.30
ICD10 via Orphanet 35 L12.3
UMLS via Orphanet 75 C0079293
Orphanet 60 ORPHA46487
UMLS 74 C0079293

Summaries for Epidermolysis Bullosa Acquisita

NIH Rare Diseases : 54 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 Integrin Pathway and PI3K-Akt signaling 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 abnormal blistering of the skin and abnormal hair morphology

Disease Ontology : 12 An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has material basis in the development of autoantibodies to type VII collagen.

Wikipedia : 77 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 94)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa dystrophica 30.8 COL7A1 DST
2 epidermolysis bullosa 30.8 COL17A1 COL7A1 DST ITGB4 LAMA3 LAMC2
3 bullous pemphigoid 30.1 COL17A1 DST ITGB4 LAMA3 LAMC2
4 cicatricial pemphigoid 29.8 COL17A1 DST ITGB4 LAMA3 LAMC2
5 linear iga disease 29.7 COL17A1 DST ITGB4
6 lupus erythematosus 10.7
7 crohn's disease 10.7
8 systemic lupus erythematosus 10.7
9 psoriasis 10.6
10 anti-p200 pemphigoid 10.6
11 ocular cicatricial pemphigoid 10.5
12 dermatitis 10.5
13 amyloidosis 10.5
14 porphyria cutanea tarda 10.4
15 myeloma, multiple 10.4
16 psoriasis 7 10.4
17 psoriasis 11 10.4
18 psoriasis 13 10.4
19 inflammatory bowel disease 10.4
20 porphyria 10.4
21 autoimmune disease 10.4
22 factor viii deficiency 10.4
23 hemophilia a 10.4
24 ulcerative colitis 10.4
25 lymphoma 10.4
26 colitis 10.4
27 relapsing polychondritis 10.4
28 acquired hemophilia 10.4
29 dominant dystrophic epidermolysis bullosa 10.4
30 dysphagia 10.4
31 cryoglobulinemia, familial mixed 10.2
32 pancreatic cancer 10.2
33 wilson disease 10.2
34 dermatitis herpetiformis, familial 10.2
35 yemenite deaf-blind hypopigmentation syndrome 10.2
36 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
37 graft-versus-host disease 10.2
38 alopecia 10.2
39 glomerulonephritis 10.2
40 hepatitis 10.2
41 mantle cell lymphoma 10.2
42 cutaneous lupus erythematosus 10.2
43 nephrotic syndrome 10.2
44 esophagitis 10.2
45 graves' disease 10.2
46 crescentic glomerulonephritis 10.2
47 cystitis 10.2
48 squamous cell carcinoma 10.2
49 thyroid cancer 10.2
50 hepatitis c 10.2

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:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008066
2 abnormal hair morphology 33 hallmark (90%) HP:0001595
3 milia 60 33 frequent (33%) Frequent (79-30%) HP:0001056
4 diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000819
5 abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002027
6 nail dystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008404
7 pruritus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000989
8 atypical scarring of skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000987
9 inflammation of the large intestine 60 33 occasional (7.5%) Occasional (29-5%) HP:0002037
10 hyperpigmentation of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000953
11 abnormality of the hair 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Epidermolysis Bullosa Acquisita:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.7 FCGRT HSP90AA1 ITGB4 LAMA3 LAMC2 RORA
2 craniofacial MP:0005382 9.65 COL7A1 HSP90AA1 ITGB4 LAMA3 LAMC2
3 mortality/aging MP:0010768 9.56 COL7A1 FCGRT HSP90AA1 ITGB4 LAMA3 LAMC2
4 respiratory system MP:0005388 9.02 ITGB4 LAMA3 LAMC2 RORA SYK

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 Genetic Susceptibility and Influence of the Microbiomae in Bullous Pemphigoid Unknown status NCT02874079 Not Applicable
3 Establishment of the National Epidermolysis Bullosa Registry Completed NCT00004761
4 Register of Autoimmune Bullous Dermatoses Completed NCT02899923
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:

42
Skin, Eye, Neutrophil, Liver, T Cells, Testes, Lymph Node

Publications for Epidermolysis Bullosa Acquisita

Articles related to Epidermolysis Bullosa Acquisita:

(show top 50) (show all 469)
# Title Authors Year
1
Correction: Pathology in Practice: presumptive epidermolysis bullosa acquisita in a dog. ( 30938612 )
2019
2
Possible involvement of IgE antibody in epidermolysis bullosa acquisita: detection and correlation. ( 30973335 )
2019
3
Type VII collagen IgE autoantibodies in epidermolysis bullosa acquisita: more common than suspected. ( 31025734 )
2019
4
Ocular involvement in epidermolysis bullosa acquisita with long-term follow-up. ( 31088794 )
2019
5
Direct Immunofluorescence of Mechanobullous Epidermolysis Bullosa Acquisita, Porphyria Cutanea Tarda and Pseudoporphyria. ( 30176039 )
2019
6
Detection of anti-type VII collagen IgE antibodies in epidermolysis bullosa acquisita. ( 30311191 )
2019
7
In utero development of epidermolysis bullosa acquisita. ( 30338555 )
2019
8
Post-orf epidermolysis bullosa acquisita. ( 30357964 )
2019
9
Elevation of serum interleukin-21 in patients with epidermolysis bullosa acquisita. ( 30672610 )
2019
10
Distinguishing Epidermolysis Bullosa Acquisita From Bullous Pemphigoid Without Direct Immunofluorescence. ( 28719980 )
2018
11
Therapeutic Effect of a Novel Phosphatidylinositol-3-Kinase δ Inhibitor in Experimental Epidermolysis Bullosa Acquisita. ( 30050528 )
2018
12
Epidermolysis bullosa acquisita in association with mantle cell lymphoma. ( 30063787 )
2018
13
The International Bullous Diseases Group consensus on diagnostic criteria for epidermolysis bullosa acquisita: a useful tool for dermatologists. ( 30156286 )
2018
14
Meta-analysis of the clinical and immunopathological characteristics and treatment outcomes in epidermolysis bullosa acquisita patients. ( 30180870 )
2018
15
Accessible Diagnostic Methods to Differentiate between Epidermolysis Bullosa Acquisita and Other Subepidermal Autoimmune Bullous Diseases. ( 30210178 )
2018
16
The use of rituximab in treatment of epidermolysis bullosa acquisita: Three new cases and a review of the literature. ( 30284354 )
2018
17
A Case Report of the Use of Rituximab and the Epidermolysis Bullosa Disease Activity Scoring Index (EBDASI) in a Patient with Epidermolysis Bullosa Acquisita with Extensive Esophageal Involvement. ( 30665483 )
2018
18
Epidermolysis Bullosa Acquisita: The 2019 Update. ( 30687710 )
2018
19
Steroid-induced Diabetes Complicating Treatment of Epidermolysis Bullosa Acquisita: A Preventable Treatment Complication Stresses the Importance of Primary Care Follow-up. ( 30693161 )
2018
20
Calcitriol Treatment Ameliorates Inflammation and Blistering in Mouse Models of Epidermolysis Bullosa Acquisita. ( 28942362 )
2018
21
Response to 'Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita: a multicentre analysis'. ( 28977674 )
2018
22
Serration pattern analysis for differentiating epidermolysis bullosa acquisita from other pemphigoid diseases. ( 29154993 )
2018
23
International Bullous Diseases Group: consensus on diagnostic criteria for epidermolysis bullosa acquisita. ( 29165796 )
2018
24
Case of epidermolysis bullosa acquisita with concomitant anti-laminin-332 antibodies. ( 29205468 )
2018
25
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
26
Epidermal aspects of type VII collagen: Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita. ( 29352483 )
2018
27
Orf - a potential trigger for self-limiting epidermolysis bullosa acquisita-like blistering. ( 29441548 )
2018
28
Whole-Genome Expression Profiling in Skin Reveals SYK As a Key Regulator of Inflammation in Experimental Epidermolysis Bullosa Acquisita. ( 29497423 )
2018
29
Neutrophil Adhesion Is a Prerequisite for Antibody-Mediated Proteolytic Tissue Damage in Experimental Models of Epidermolysis Bullosa Acquisita. ( 29559343 )
2018
30
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
31
Case Report of a 21-Year-Old Man With Epidermolysis Bullosa Acquisita. ( 29865955 )
2018
32
Human orf complicated by epidermolysis bullosa acquisita. ( 28338219 )
2018
33
Coexistence of acquired hemophilia A and epidermolysis bullosa acquisita: Two case reports and published work review. ( 27511892 )
2017
34
Childhood epidermolysis bullosa acquisita during squaric acid dibutyl ester immunotherapy for alopecia areata. ( 27208509 )
2017
35
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
36
The Leukotriene B4 and its Receptor BLT1 Act as Critical Drivers of Neutrophil Recruitment in Murine Bullous Pemphigoid-Like Epidermolysis Bullosa Acquisita. ( 28108297 )
2017
37
CD11b-deficient mice exhibit an increased severity in the late phase of antibody transfer-induced experimental epidermolysis bullosa acquisita. ( 28857285 )
2017
38
Evidence for a contributory role of a xenogeneic immune response in experimental epidermolysis bullosa acquisita. ( 28887841 )
2017
39
Efficacy of intravenous immunoglobulins for the treatment of mucous membrane pemphigoid-like epidermolysis bullosa acquisita. ( 29084648 )
2017
40
Acute renal failure in a patient with epidermolysis bullosa acquisita. ( 29267434 )
2017
41
Epidermolysis bullosa acquisita. ( 29447655 )
2017
42
Clinical features and diagnosis of epidermolysis bullosa acquisita. ( 27580464 )
2017
43
Reduced skin blistering in experimental epidermolysis bullosa acquisita after anti-TNF treatment. ( 27999842 )
2017
44
Signalling and targeted therapy of inflammatory cells in epidermolysis bullosa acquisita. ( 28266741 )
2017
45
Coexistence of psoriasis and epidermolysis bullosa acquisita: Evaluation of the integrity of the basement membrane. ( 28425108 )
2017
46
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
47
The Syk Tyrosine Kinase Is Required for Skin Inflammation in an In Vivo Mouse Model of Epidermolysis Bullosa Acquisita. ( 28576735 )
2017
48
A rare occurrence of epidermolysis bullosa acquisita in a patient with retroviral disease. ( 28632473 )
2017
49
Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita: a multicentre analysis. ( 28703393 )
2017
50
CCL3/MIP1α represents a biomarker but not a mandatory cytokine for disease development in experimental epidermolysis bullosa acquisita. ( 28711238 )
2017

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:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 COL17A1 COL7A1 ITGB4 LAMA3 LAMC2
2
Show member pathways
12.64 HSP90AA1 ITGB4 LAMA3 LAMC2 SYK
3
Show member pathways
12.63 COL17A1 COL7A1 ITGB4 LAMA3 LAMC2 SYK
4
Show member pathways
12.34 COL17A1 DST ITGB4 LAMA3 LAMC2
5
Show member pathways
12.15 COL17A1 COL7A1 DST ITGB4 LAMA3 LAMC2
6
Show member pathways
12.13 ITGB4 LAMA3 LAMC2
7
Show member pathways
11.9 HSP90AA1 ITGB4 SYK
8
Show member pathways
11.8 ITGB4 LAMA3 LAMC2
9 11.79 HSP90AA1 ITGB4 SYK
10
Show member pathways
11.75 COL17A1 COL7A1 DST ITGB4 LAMA3 LAMC2
11
Show member pathways
11.74 COL17A1 COL7A1 ITGB4 LAMA3 LAMC2 SYK
12 11.33 LAMA3 LAMC2
13 11.04 ITGB4 LAMA3
14 10.97 COL17A1 ITGB4
15 10.67 COL17A1 COL7A1 ITGB4 LAMA3 LAMC2

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 extracellular matrix GO:0031012 9.5 COL17A1 COL7A1 LAMC2
2 collagen-containing extracellular matrix GO:0062023 9.46 COL17A1 COL7A1 LAMA3 LAMC2
3 cell leading edge GO:0031252 9.26 DST ITGB4
4 hemidesmosome GO:0030056 9.13 COL17A1 DST ITGB4
5 basement membrane GO:0005604 9.02 COL17A1 COL7A1 DST LAMA3 LAMC2

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 9.65 COL7A1 DST ITGB4 LAMA3 LAMC2
2 integrin-mediated signaling pathway GO:0007229 9.5 DST ITGB4 SYK
3 epidermis development GO:0008544 9.46 COL17A1 COL7A1 LAMA3 LAMC2
4 endodermal cell differentiation GO:0035987 9.4 COL7A1 LAMA3
5 cell motility GO:0048870 9.37 DST ITGB4
6 extracellular matrix organization GO:0030198 9.35 COL17A1 COL7A1 ITGB4 LAMA3 LAMC2
7 hemidesmosome assembly GO:0031581 9.02 COL17A1 DST ITGB4 LAMA3 LAMC2

Molecular functions related to Epidermolysis Bullosa Acquisita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL17A1 COL7A1
2 integrin binding GO:0005178 9.13 DST ITGB4 SYK
3 extracellular matrix structural constituent GO:0005201 8.8 COL17A1 LAMA3 LAMC2

Sources for Epidermolysis Bullosa Acquisita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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