EBA
MCID: EPD006
MIFTS: 45

Epidermolysis Bullosa Acquisita (EBA) malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Acquisita

Aliases & Descriptions for Epidermolysis Bullosa Acquisita:

Name: Epidermolysis Bullosa Acquisita 12 50 56 52 42 14 69
Acquired Epidermolysis Bullosa 12 50 56
Eb Acquisita 50
Eba 50

Characteristics:

Orphanet epidemiological data:

56
acquired epidermolysis bullosa
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:4313
ICD10 33 L12.3 L12.30
MeSH 42 D016107
NCIt 47 C84690
SNOMED-CT 64 200911009 2772003
Orphanet 56 ORPHA46487
ICD10 via Orphanet 34 L12.3
UMLS 69 C0079293

Summaries for Epidermolysis Bullosa Acquisita

NIH Rare Diseases : 50 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 bullous pemphigoid, and has symptoms including pruritus, abdominal pain and diabetes mellitus. An important gene associated with Epidermolysis Bullosa Acquisita is LAMA3 (Laminin Subunit Alpha 3), 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 t cells, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Wikipedia : 71 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 84)
id Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa 11.2
2 bullous pemphigoid 10.7
3 cicatricial pemphigoid 10.5
4 lupus erythematosus 10.5
5 crohn's disease 10.4
6 systemic lupus erythematosus 10.4
7 esophagitis 10.3
8 psoriasis 10.2
9 amyloidosis 10.2
10 anti-p200 pemphigoid 10.2
11 multiple myeloma 10.2
12 inflammatory bowel disease 10.2
13 laryngitis 10.2
14 aquagenic urticaria 10.2 COL7A1 ITGB4
15 porphyria cutanea tarda 10.1
16 ulcerative colitis 10.1
17 colitis 10.1
18 mucositis 10.1
19 porphyria 10.1
20 relapsing polychondritis 10.1
21 dermatitis 10.1
22 dominant dystrophic epidermolysis bullosa 10.1
23 dysphagia 10.1
24 fecal incontinence 10.1 COL7A1 DST
25 spinocerebellar ataxia 23 10.0 COL7A1 DST ITGB4
26 peptidic growth factors deficiency 10.0 COL17A1 DST
27 colonic benign neoplasm 10.0 CD79A HSP90AA1
28 wilson disease 9.9
29 pancreatic cancer 9.9
30 hemophilia a 9.9
31 alopecia 9.9
32 epidermolysis bullosa dystrophica 9.9
33 hepatitis 9.9
34 cutaneous lupus erythematosus 9.9
35 lymphoma 9.9
36 nephrotic syndrome 9.9
37 graves' disease 9.9
38 cystitis 9.9
39 squamous cell carcinoma 9.9
40 hepatitis c 9.9
41 cryoglobulinemia 9.9
42 pulmonary tuberculosis 9.9
43 tuberculosis 9.9
44 pancreatitis 9.9
45 pneumonia 9.9
46 conjunctivitis 9.9
47 thyroiditis 9.9
48 periodontitis 9.9
49 dermatitis herpetiformis 9.9
50 alopecia areata 9.9

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:

56 32 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Occasional (29-5%) HP:0000989
2 abdominal pain 56 32 Occasional (29-5%) HP:0002027
3 diabetes mellitus 56 32 Occasional (29-5%) HP:0000819
4 nail dystrophy 56 32 Occasional (29-5%) HP:0008404
5 abnormal blistering of the skin 56 32 Very frequent (99-80%) HP:0008066
6 atypical scarring of skin 56 32 Occasional (29-5%) HP:0000987
7 inflammation of the large intestine 56 32 Occasional (29-5%) HP:0002037
8 abnormality of the hair 56 32 Very frequent (99-80%) HP:0001595
9 hyperpigmentation of the skin 56 32 Occasional (29-5%) HP:0000953
10 milia 56 32 Frequent (79-30%) HP:0001056

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

26
id 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 CD79A LAMA3
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 CD79A COL7A1 LAMA3 RORA
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):


id 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:


id Name Status NCT ID Phase
1 Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita Completed NCT00004359 Phase 2
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:

39
Skin, Eye, T Cells, Testes, Neutrophil, B Cells, Lymph Node

Publications for Epidermolysis Bullosa Acquisita

Articles related to Epidermolysis Bullosa Acquisita:

(show top 50) (show all 394)
id Title Authors Year
1
Childhood Epidermolysis Bullosa Acquisita: Confirmation of Diagnosis by Skin Deficient in Type VII Collagen, Enzyme-linked Immunosorbent Assay, and Immunoblotting. ( 27293257 )
2016
2
An autoimmune bullous dermatosis with clinical, histopathological, and immunological features of bullous pemphigoid and epidermolysis bullosa acquisita in an adult. ( 26989994 )
2016
3
Clinical features and diagnosis of epidermolysis bullosa acquisita. ( 27580464 )
2016
4
The use of Biochip immunofluorescence microscopy for the serological diagnosis of epidermolysis bullosa acquisita. ( 26895535 )
2016
5
Discovering potential drug-targets for personalized treatment of autoimmune disorders - what we learn from epidermolysis bullosa acquisita. ( 26838687 )
2016
6
Coexistence of acquired hemophilia A and epidermolysis bullosa acquisita: Two case reports and published work review. ( 27511892 )
2016
7
Epidermolysis bullosa acquisita associated with dysphagia and stricture of esophagus. ( 27643544 )
2016
8
Long-term results of rituximab-intravenous immunoglobulin combination therapy in patients with epidermolysis bullosa acquisita resistant to conventional therapy. ( 27161164 )
2016
9
PDE4 Inhibition as Potential Treatment ofA Epidermolysis Bullosa Acquisita. ( 27388992 )
2016
10
Reduced skin blistering in experimental epidermolysis bullosa acquisita after anti-TNF treatment. ( 27999842 )
2016
11
T cells mediate autoantibody-induced cutaneous inflammation and blistering in epidermolysis bullosa acquisita. ( 27917914 )
2016
12
Oral colchicine monotherapy for epidermolysis bullosa acquisita: Mechanism of action and efficacy. ( 27153772 )
2016
13
Myeloid-related proteins-8 and -14 are expressed but dispensable in the pathogenesis of experimental epidermolysis bullosa acquisita and bullous pemphigoid. ( 26692467 )
2016
14
Childhood epidermolysis bullosa acquisita during squaric acid dibutylester (SADBE) immunotherapy for alopecia areata. ( 27208509 )
2016
15
Epidermolysis Bullosa Acquisita: From Pathophysiology to Novel Therapeutic Options. ( 26763420 )
2016
16
Cytoskeletal Regulation of Inflammation and Its Impact on Skin Blistering Disease Epidermolysis Bullosa Acquisita. ( 27420054 )
2016
17
Clinical and immunological studies for 105 Japanese seropositive patients of epidermolysis bullosa acquisita examined at Kurume University. ( 27247994 )
2016
18
Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa. ( 26763454 )
2016
19
Comparison of 3 type VII collagen (C7) assays for serologic diagnosis of epidermolysis bullosa acquisita (EBA). ( 26947449 )
2016
20
Childhood Epidermolysis Bullosa Acquisita with Underlying Coeliac Disease. ( 25824338 )
2015
21
Paraneoplastic Epidermolysis Bullosa Acquisita Associated with Thyroid Carcinoma. ( 26303980 )
2015
22
Inflammatory epidermolysis bullosa acquisita in a 4-year-old girl. ( 26046385 )
2015
23
Epidermolysis bullosa acquisita in a 17-year-old boy with Crohn's disease. ( 26163555 )
2015
24
Epidermolysis bullosa acquisita of MRSA skin carrier: a case of successful total hip arthroplasty. ( 25952910 )
2015
25
Porphyria Cutanea Tarda Masquerading as Epidermolysis Bullosa Acquisita: A Report of Two Cases. ( 26269702 )
2015
26
Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa. ( 26401585 )
2015
27
Epidermolysis bullosa acquisita in a patient with psoriasis vulgaris. ( 26243636 )
2015
28
Radiosensitive Hematopoietic Cells Determine the Extent of Skin Inflammation in Experimental Epidermolysis Bullosa Acquisita. ( 26202985 )
2015
29
Canine epidermolysis bullosa acquisita: a retrospective study of 20 cases. ( 26369402 )
2015
30
The successful use of extracorporeal photopheresis in a 12-year-old patient with refractory epidermolysis bullosa acquisita. ( 25639865 )
2015
31
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated with Neonatal Epidermolysis Bullosa Acquisita. ( 25790289 )
2015
32
IgM-type epidermolysis bullosa acquisita. ( 26285920 )
2015
33
A childhood subepidermal autoimmune bullous disease resembling mechanobullous epidermolysis bullosa acquisita. ( 25865032 )
2015
34
Immune mechanism-targeted treatment of experimental epidermolysis bullosa acquisita. ( 26471717 )
2015
35
The retinoid-related orphan receptor alpha is essential for the end-stage effector phase of experimental epidermolysis bullosa acquisita. ( 25953430 )
2015
36
Mycophenolate mofetil (MMF) in the treatment of epidermolysis bullosa acquisita (EBA) long-term follow-up. ( 27051767 )
2015
37
Skin microbiota-associated inflammation precedes autoantibody induced tissue damage in experimental epidermolysis bullosa acquisita. ( 26341384 )
2015
38
Conditional depletion of mast cells has no impact on the severity of experimental epidermolysis bullosa acquisita. ( 25678008 )
2015
39
Heat shock protein 90 is required for ex vivo neutrophil-driven autoantibody-induced tissue damage in experimental epidermolysis bullosa acquisita. ( 25739426 )
2015
40
Erythrodermic Epidermolysis Bullosa Acquisita. ( 25785509 )
2015
41
Recombinant Soluble CD32 Suppresses Disease Progression in Experimental Epidermolysis Bullosa Acquisita. ( 25330298 )
2014
42
Epidermolysis bullosa acquisita-like eruption with anticollagen VII autoantibodies induced by d-penicillamine in Wilson disease. ( 24888462 )
2014
43
GM-CSF Modulates Autoantibody Production and Skin Blistering in Experimental Epidermolysis Bullosa Acquisita. ( 24337383 )
2014
44
Epidermolysis bullosa acquisita: a retrospective analysis of 12 patients evaluated in four tertiary hospitals in Spain. ( 24890437 )
2014
45
Effects of Intravenous Immunoglobulins on Mice with Experimental Epidermolysis Bullosa Acquisita. ( 25330299 )
2014
46
Inflammatory epidermolysis bullosa acquisita effectively treated with minocycline. ( 24577587 )
2014
47
Esophageal involvement in epidermolysis bullosa acquisita. ( 24975454 )
2014
48
Low sensitivity of type VII collagen enzyme-linked immunosorbent assay in epidermolysis bullosa acquisita: serration pattern analysis on skin biopsy is required for diagnosis. ( 23480491 )
2013
49
Epidermolysis bullosa acquisita and inflammatory bowel disease: a review of the literature. ( 23517353 )
2013
50
Anti-type VII collagen autoantibodies, detected by enzyme-linked immunosorbent assay, fluctuate in parallel with clinical severity in patients with epidermolysis bullosa acquisita. ( 24127822 )
2013

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:

id 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 12.11 HSP90AA1 ITGB4 LAMA3
4
Show member pathways
12.08 COL17A1 COL7A1 DST ITGB4 LAMA3
5
Show member pathways
11.68 COL17A1 COL7A1 DST ITGB4 LAMA3
6
Show member pathways
11.26 ITGB4 LAMA3
7 10.9 ITGB4 LAMA3
8 10.81 COL17A1 ITGB4

GO Terms for Epidermolysis Bullosa Acquisita

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.67 COL7A1 DST ITGB4 LAMA3
2 extracellular matrix organization GO:0030198 9.5 COL7A1 ITGB4 LAMA3
3 endodermal cell differentiation GO:0035987 9.26 COL7A1 LAMA3
4 cell motility GO:0048870 9.16 DST ITGB4
5 epidermis development GO:0008544 9.13 COL17A1 COL7A1 LAMA3
6 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....