EBA
MCID: EPD006
MIFTS: 49

Epidermolysis Bullosa Acquisita (EBA)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Acquisita

MalaCards integrated aliases for Epidermolysis Bullosa Acquisita:

Name: Epidermolysis Bullosa Acquisita 12 74 52 58 54 43 15 17 71
Acquired Epidermolysis Bullosa 12 52 58 32
Eb Acquisita 52
Eba 52

Characteristics:

Orphanet epidemiological data:

58
epidermolysis bullosa acquisita
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:4313
MeSH 43 D016107
NCIt 49 C84690
SNOMED-CT 67 2772003
ICD10 32 L12.3 L12.30
ICD10 via Orphanet 33 L12.3
UMLS via Orphanet 72 C0079293
Orphanet 58 ORPHA46487
UMLS 71 C0079293

Summaries for Epidermolysis Bullosa Acquisita

NIH Rare Diseases : 52 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 ocular cicatricial pemphigoid and bullous pemphigoid. An important gene associated with Epidermolysis Bullosa Acquisita is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling 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 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 : 74 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 161)
# Related Disease Score Top Affiliating Genes
1 ocular cicatricial pemphigoid 30.9 SERPINH1 ITGB4 HLA-DRB1
2 bullous pemphigoid 30.7 LAMC2 LAMA3 LAD1 ITGB4 HLA-DRB1 DST
3 epidermolysis bullosa dystrophica 30.6 DST COL7A1 COL17A1
4 epidermolysis bullosa 30.2 MATN1 LAMC2 LAMA3 ITGB4 DST COL7A1
5 pemphigus 30.1 HLA-DRB1 DST COL17A1
6 bullous skin disease 30.1 LAMA3 DST COL17A1
7 pemphigus foliaceus 30.0 HLA-DRB1 DST
8 pemphigus vulgaris, familial 29.9 HLA-DRB1 DST COL17A1
9 autoimmune disease 29.8 SYK IL2RA IL21 HLA-DRB1 FCGRT COL17A1
10 pemphigus gestationis 29.7 DST COL17A1
11 linear iga disease 29.6 LAD1 ITGB4 DST COL17A1
12 pemphigoid gestationis 29.3 HLA-DRB1 DST COL17A1
13 paraneoplastic pemphigus 29.3 HLA-DRB1 DST COL17A1
14 skin disease 29.2 LAMC2 LAMA3 LAD1 ITGB4 DST COL7A1
15 cicatricial pemphigoid 28.5 SERPINH1 LAMC2 LAMA3 LAD1 ITGB4 HLA-DRB1
16 junctional epidermolysis bullosa 28.4 LAMC2 LAMA3 ITGB4 DST COL7A1 COL17A1
17 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.8
18 crohn's disease 10.8
19 systemic lupus erythematosus 10.7
20 lupus erythematosus 10.7
21 anti-p200 pemphigoid 10.7
22 yemenite deaf-blind hypopigmentation syndrome 10.6
23 inflammatory bowel disease 10.6
24 recessive dystrophic epidermolysis bullosa 10.6
25 amyloidosis 10.6
26 dysphagia 10.6
27 pustulosis of palm and sole 10.6
28 conjunctivitis 10.6
29 psoriasis 10.6
30 myeloma, multiple 10.5
31 ulcerative colitis 10.5
32 obsolete: bullous systemic lupus erythematosus 10.5
33 inherited epidermolysis bullosa 10.5
34 porphyria cutanea tarda 10.5
35 dermatitis herpetiformis, familial 10.5
36 erythema multiforme 10.5
37 crohn's colitis 10.5
38 porphyria 10.5
39 dermatitis herpetiformis 10.5
40 hypereosinophilic syndrome 10.5
41 factor viii deficiency 10.4
42 neutrophil migration 10.4
43 hemophilia a 10.4
44 graft-versus-host disease 10.4
45 membranous nephropathy 10.4
46 exanthem 10.4
47 lymphoma 10.4
48 colitis 10.4
49 hypothyroidism 10.4
50 hepatitis c 10.4

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:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
2 abnormal hair morphology 31 hallmark (90%) HP:0001595
3 milia 58 31 frequent (33%) Frequent (79-30%) HP:0001056
4 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
5 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
6 nail dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008404
7 pruritus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000989
8 atypical scarring of skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000987
9 inflammation of the large intestine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002037
10 hyperpigmentation of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000953
11 abnormality of the hair 58 Very frequent (99-80%)

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

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.74 COL7A1 IL21 IL2RA LAMA3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-130 9.74 IL2RA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.74 IL2RA
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.74 LAMA3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.74 IL2RA
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.74 LAMA3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.74 COL7A1 IL2RA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.74 IL21
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.74 COL7A1 LAMA3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.74 IL2RA
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.74 IL21
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.74 IL21
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.74 IL2RA
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.74 COL7A1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.74 COL7A1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.74 IL21
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.74 LAMA3
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.74 IL21
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.74 COL7A1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.74 COL7A1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.74 LAMA3

MGI Mouse Phenotypes related to Epidermolysis Bullosa Acquisita:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 COL7A1 HSP90AA1 ITGB4 LAMA3 LAMC2 SERPINH1
2 immune system MP:0005387 9.61 FCGRT HSP90AA1 IL21 IL2RA ITGB4 LAMA3
3 respiratory system MP:0005388 9.17 IL2RA ITGB4 LAMA3 LAMC2 RORA SERPINH1

Drugs & Therapeutics for Epidermolysis Bullosa Acquisita

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

(show all 10)
# 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
4
Tacrolimus Approved, Investigational Early Phase 1 104987-11-3 445643 439492 6473866
5
Lorazepam Approved Early Phase 1 846-49-1 3958
6
Fludarabine Approved Early Phase 1 21679-14-1, 75607-67-9 30751
7
Busulfan Approved, Investigational Early Phase 1 55-98-1 2478
8
alemtuzumab Approved, Investigational Early Phase 1 216503-57-0
9 Immunologic Factors
10 Autoantibodies

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
3 A Pilot Study of Reduced Intensity Conditioning (RIC) and Allogeneic Stem Cell Transplantation (ALLOSCT) In Children With Recessive Dystrophic Epidermolysis Bullosa (RDEB) Unknown status NCT00881556 Early Phase 1 Reduced Intensity Transplant conditioning
4 A Controlled Cross Sectional Study: Prevalence of Cutaneous Autoimmune Phenomena in HIV Infected Patients Completed NCT03129308
5 Establishment of the National Epidermolysis Bullosa Registry Completed NCT00004761
6 Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses 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:

40
Skin, Eye, Neutrophil, T Cells, Liver, Kidney, Testes

Publications for Epidermolysis Bullosa Acquisita

Articles related to Epidermolysis Bullosa Acquisita:

(show top 50) (show all 856)
# Title Authors PMID Year
1
C4d immunohistochemical stain is a sensitive method to confirm immunoreactant deposition in formalin-fixed paraffin-embedded tissue in bullous pemphigoid. 54 61
19515044 2009
2
The cartilage matrix protein subdomain of type VII collagen is pathogenic for epidermolysis bullosa acquisita. 54 61
17525268 2007
3
Autoimmune subepidermal blistering diseases in Uganda: correlation of autoantibody class with age of patients. 54 61
16961507 2006
4
A case of mixed bullous disease of epidermolysis bullosa acquisita and linear IgA bullous dermatosis. 54 61
16088162 2005
5
A comparative study of antibody titers of blister fluid and serum in patients with subepidermal immunobullous diseases. 54 61
15117364 2004
6
Crescentic glomerulonephritis and subepidermal blisters with autoantibodies to alpha5 and alpha6 chains of type IV collagen. 54 61
12746470 2003
7
IgA-mediated epidermolysis bullosa acquisita: two cases and review of the literature. 54 61
12451379 2002
8
Inflammatory variant of epidermolysis bullosa acquisita with IgG autoantibodies against type VII collagen and laminin alpha3. 54 61
10677099 2000
9
Epidermal adhesion molecules and basement membrane components as target structures of autoimmunity. 54 61
9672190 1998
10
Acquired subepidermal bullous diseases associated with psoriasis: a clinical, immunopathological and immunogenetic study. 54 61
8977674 1996
11
Autoantibodies to bullous pemphigoid and epidermolysis bullosa acquisita antigens in an infant. 54 61
8949441 1996
12
The 105-kDa basement membrane autoantigen p105 is N-terminally homologous to a tumor-associated antigen. 54 61
8757764 1996
13
Identification of a 168-kDa mucosal antigen in a subset of patients with cicatricial pemphigoid. 54 61
8752852 1996
14
A novel subepidermal blistering disease with autoantibodies to a 200-kDa antigen of the basement membrane zone. 54 61
8752680 1996
15
A novel subepidermal blistering disease with autoantibodies to a 200-kDa antigen of the basement membrane zone. 54 61
8648178 1996
16
A case of generalized pustular psoriasis followed by bullous disease: an atypical case of bullous pemphigoid or a novel bullous disease? 54 61
8745904 1996
17
Fluorescence overlay antigen mapping of the epidermal basement membrane zone: III. Topographic staining and effective resolution. 54 61
7608519 1995
18
Indirect immunohistochemistry and immunoelectron microscopy distribution of eight epidermal-dermal junction epitopes in the pig and in isolated perfused skin treated with bis (2-chloroethyl) sulfide. 54 61
7544906 1995
19
Identification and partial characterization of a novel 105-kDalton lower lamina lucida autoantigen associated with a novel immune-mediated subepidermal blistering disease. 54 61
8370962 1993
20
Application of an image analyzer to gold labeling in immunoelectron microscopy to achieve better demonstration and quantitative analysis. 54 61
8417107 1993
21
Cryofixed, freeze-dried and paraffin-embedded skin enables successful immunohistochemical staining of skin basement membrane antigens. 54 61
1385370 1992
22
Ultrastructural immunogold studies in two cases of linear IgA dermatosis. Are there two distinct types of this disease? 54 61
1390137 1992
23
The site of blister formation in dermatitis herpetiformis is within the lamina lucida. 54 61
1430358 1992
24
Basement membrane and fibroblast aberration in blisters at the donor, graft, and spontaneously healed sites in patients with burns. 54 61
1739295 1992
25
Direct immunofluorescence microscopy of 1 mol/L sodium chloride-treated patient skin. 54 61
1869682 1991
26
Lichen planus pemphigoides: case report and results of immunofluorescence and immunoelectron microscopic study. 54 61
2180994 1990
27
Expression of extracellular and intracellular bullous pemphigoid antigens at the dermal-epibolic junction in organ culture of human skin. 54 61
2407787 1990
28
Ocular involvement in epidermolysis bullosa acquisita with long-term follow-up. 61
31088794 2020
29
Anti-neonatal Fc receptor (FcRn) antibody treatment ameliorates experimental epidermolysis bullosa acquisita in mice. 61
31975370 2020
30
Japanese guidelines for the management of pemphigoid (including epidermolysis bullosa acquisita). 61
31646663 2019
31
Epidermolysis Bullosa Acquisita: A Case Report of a Rare Clinical Phenotype and a Review of Literature. 61
31938664 2019
32
From bench to bedside: evolving therapeutic targets in autoimmune blistering disease. 61
31314932 2019
33
The Sphingosine-1-Phosphate Receptor Modulator Fingolimod Aggravates Murine Epidermolysis Bullosa Acquisita. 61
31176709 2019
34
Efficacy of intravenous immunoglobulins for laryngopharyngeal lesions and upper airway obstruction in epidermolysis bullosa acquisita. 61
31730256 2019
35
Bullous Diseases in Children: A Review of Clinical Features and Treatment Options. 61
31506891 2019
36
Mucous membrane pemphigoid and oral blistering diseases. 61
31102296 2019
37
Review of autoimmune blistering diseases: the Pemphigoid diseases. 61
31087464 2019
38
Dual inhibition of complement factor 5 and leukotriene B4 synergistically suppresses murine pemphigoid disease. 61
31391346 2019
39
Epidermolysis bullosa acquisita: A comprehensive review. 61
31181325 2019
40
Alopecia in Autoimmune Blistering Diseases: A Systematic Review of Pathogenesis and Clinical Features of Disease. 61
31559249 2019
41
Successful treatment of refractory epidermolysis bullosa acquisita with intravenous immunoglobulin and dapsone. 61
31603972 2019
42
Optimization of reference gene panels for gene expression analysis in preclinical models of inflammatory skin diseases. 61
31177560 2019
43
Type VII collagen IgE autoantibodies in epidermolysis bullosa acquisita: more common than suspected. 61
31025734 2019
44
Detection of anti-type VII collagen IgE antibodies in epidermolysis bullosa acquisita. 61
30311191 2019
45
Correction: Pathology in Practice: presumptive epidermolysis bullosa acquisita in a dog. 61
30938612 2019
46
[Epidermolysis bullosa acquisita]. 61
30887080 2019
47
Ocular Manifestations and Management of Autoimmune Bullous Diseases. 61
31114657 2019
48
Consensus on the treatment of autoimmune bullous dermatoses: bullous pemphigoid, mucous membrane pemphigoid and epidermolysis bullosa acquisita - Brazilian Society of Dermatology. 61
31166405 2019
49
Diagnosis of anti-laminin γ-1 pemphigoid by immunoblot analysis. 61
29972879 2019
50
Possible involvement of IgE antibody in epidermolysis bullosa acquisita: detection and correlation. 61
30973335 2019

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
12.72 SYK LAMC2 LAMA3 ITGB4 IL2RA HSP90AA1
2
Show member pathways
12.59 SYK LAMC2 LAMA3 ITGB4 IL2RA COL7A1
3
Show member pathways
12.45 LAMC2 LAMA3 ITGB4 DST COL17A1
4
Show member pathways
12.3 RORA IL2RA IL21 HSP90AA1 HLA-DRB1
5
Show member pathways
12.23 SERPINH1 LAMC2 LAMA3 ITGB4 DST COL7A1
6
Show member pathways
11.9 SYK ITGB4 IL2RA IL21 HSP90AA1
7
Show member pathways
11.88 SERPINH1 MATN1 LAMC2 LAMA3 ITGB4 DST
8
Show member pathways
11.83 LAMC2 LAMA3 ITGB4
9 10.92 IL2RA HLA-DRB1
10 10.64 LAMC2 LAMA3 ITGB4 IL21 COL7A1 COL17A1

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 region GO:0005576 9.97 MATN1 LAMC2 LAMA3 LAD1 IL21 HSP90AA1
2 extracellular space GO:0005615 9.95 SERPINH1 MATN1 LAMC2 IL21 FCGRT COL7A1
3 collagen-containing extracellular matrix GO:0062023 9.63 SERPINH1 MATN1 LAMC2 LAMA3 COL7A1 COL17A1
4 extracellular matrix GO:0031012 9.56 MATN1 LAMC2 COL7A1 COL17A1
5 collagen trimer GO:0005581 9.5 SERPINH1 COL7A1 COL17A1
6 hemidesmosome GO:0030056 9.13 ITGB4 DST COL17A1
7 basement membrane GO:0005604 9.1 LAMC2 LAMA3 LAD1 DST COL7A1 COL17A1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.77 LAMC2 LAMA3 ITGB4 DST COL7A1
2 animal organ morphogenesis GO:0009887 9.63 SYK LAMC2 LAMA3
3 epidermis development GO:0008544 9.56 LAMC2 LAMA3 COL7A1 COL17A1
4 endodermal cell differentiation GO:0035987 9.49 LAMA3 COL7A1
5 cell motility GO:0048870 9.48 ITGB4 DST
6 integrin-mediated signaling pathway GO:0007229 9.46 SYK LAMA3 ITGB4 DST
7 growth plate cartilage chondrocyte morphogenesis GO:0003429 9.43 MATN1 COL7A1
8 extracellular matrix organization GO:0030198 9.43 MATN1 LAMC2 LAMA3 ITGB4 COL7A1 COL17A1
9 inflammatory response to antigenic stimulus GO:0002437 9.4 IL2RA HLA-DRB1
10 interleukin-2-mediated signaling pathway GO:0038110 9.32 SYK IL2RA
11 hemidesmosome assembly GO:0031581 9.02 LAMC2 LAMA3 ITGB4 DST COL17A1

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.26 SYK LAMA3 ITGB4 DST
2 MHC class II protein complex binding GO:0023026 9.16 HSP90AA1 HLA-DRB1
3 extracellular matrix structural constituent GO:0005201 8.92 MATN1 LAMC2 LAMA3 COL17A1

Sources for Epidermolysis Bullosa Acquisita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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