MCID: EPD006
MIFTS: 45

Epidermolysis Bullosa Acquisita malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Acquisita

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Sources:
11Disease Ontology, 13DISEASES, 30ICD10, 31ICD10 via Orphanet, 39MeSH, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Epidermolysis Bullosa Acquisita:

Name: Epidermolysis Bullosa Acquisita 11 48 54 50 39 13 68
Acquired Epidermolysis Bullosa 11 48 54
 
Eb Acquisita 48
Eba 48

Characteristics:

Orphanet epidemiological data:

54
epidermolysis bullosa acquisita:
Inheritance: Not applicable; Age of onset: Adult

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

Disease Ontology11 DOID:4313
ICD1030 L12.3, L12.30
MeSH39 D016107
SNOMED-CT62 200911009, 2772003
NCIt45 C84690
Orphanet54 ORPHA46487
ICD10 via Orphanet31 L12.3

Summaries for Epidermolysis Bullosa Acquisita

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NIH Rare Diseases:48 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 abnormality of the oral cavity, abnormal blistering of the skin and abnormality of the nail. An important gene associated with Epidermolysis Bullosa Acquisita is COL7A1 (Collagen Type VII Alpha 1 Chain), and among its related pathways are Validated transcriptional targets of AP1 family members Fra1 and Fra2 and Non-integrin membrane-ECM interactions. Affiliated tissues include skin, neutrophil and t cells, and related mouse phenotype 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

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



Diseases related to epidermolysis bullosa acquisita

Symptoms & Phenotypes for Epidermolysis Bullosa Acquisita

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Human phenotypes related to Epidermolysis Bullosa Acquisita:

 64 54 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the oral cavity64 hallmark (90%) HP:0000163
2 abnormal blistering of the skin64 54 hallmark (90%) Very frequent (99-80%) HP:0008066
3 abnormality of the nail64 typical (50%) HP:0001597
4 atypical scarring of skin64 54 occasional (7.5%) Occasional (29-5%) HP:0000987
5 pruritus64 54 occasional (7.5%) Occasional (29-5%) HP:0000989
6 urticaria64 occasional (7.5%) HP:0001025
7 thickened skin64 occasional (7.5%) HP:0001072
8 abdominal pain64 54 occasional (7.5%) Occasional (29-5%) HP:0002027
9 abnormality of the intestine64 occasional (7.5%) HP:0002242
10 diabetes mellitus54 Occasional (29-5%)
11 hyperpigmentation of the skin54 Occasional (29-5%)
12 milia54 Frequent (79-30%)
13 abnormality of the hair54 Very frequent (99-80%)
14 inflammation of the large intestine54 Occasional (29-5%)
15 nail dystrophy54 Occasional (29-5%)

UMLS symptoms related to Epidermolysis Bullosa Acquisita:


coma blister

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-588.4CD79A, COL7A1, LAMA3, RORA

Drugs & Therapeutics for Epidermolysis Bullosa Acquisita

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MethoxsalenapprovedPhase 236298-81-74114
Synonyms:
12692-94-3
298-81-7
5-19-06-00015 (Beilstein Handbook Reference)
5-Benzofuranacrylic acid, 6-hydroxy-7-methoxy-, .delta.-lactone
5-Benzofuranacrylic acid, 6-hydroxy-7-methoxy-, delta-lactone
6-Hydroxy-7-methoxy-5-benzofuranacrylic acid delta-lactone
7-Furocoumarin
8 MOP
8 Methoxypsoralen
8-METHOXYPSORALEN + UVA (SEE ALSO C55903)
8-MOP
8-MP
8-Methoxy
8-Methoxy(furano-3'.2':6.7-coumarin)
8-Methoxy-(furano-3'.2':6.7-coumarin)
8-Methoxy-2',3',6,7-furocoumarin
8-Methoxy-4',5',6,7-furocoumarin
8-Methoxy-4',5':6,7-furocoumarin
8-Methoxy-[furano-3'.2':6.7-coumarin]
8-Methoxyfuranocoumarin
8-Methoxypsoralen
8-Methoxypsoralen with ultraviolet A therapy
8-Methoxypsoralene
8-methoxyfuranocoumarins
8-methoxyfurocoumarins
8MO
8MOP
9-(methyloxy)-7H-furo[3,2-g]chromen-7-one
9-Methoxy-7H-furo(3,2-g)(1)benzopyran-7-one
9-Methoxy-7H-furo(3,2-g)benzopyran-7-one
9-Methoxy-7H-furo[3,2-g][1]benzopyran-7-one
9-Methoxy-7H-furo[3,2-g]chromen-7-one
9-Methoxyfuro(3,2-g)chromen-7-one
9-Methoxyfuro[3,2-g][1]benzopyran-7-one
9-Methoxypsoralen
9-metho xy-7H-furo(3,2-g)benzopyran-7-one
9-methoxyfuro[3,2-g]chromen-7-one
A1783/0075596
AC-4259
AC1L1HFY
ACon1_000174
AKOS000277012
Ammodin
Ammoidin
BPBio1_000680
BRD-K63430059-001-03-2
BRD-K63430059-001-06-5
BRN 0196453
BSPBio_000618
BSPBio_001997
Boehringer Ingelheim Brand of Methoxsalen
C01864
CAS-298-81-7
CCRIS 2083
CHEBI:18358
CHEBI:52028
CHEMBL416
CID4114
CPD-13042
CPD000071170
Canderm Brand of Methoxsalen
Chinoin Brand of Methoxsalen
D00139
D008730
DB Brand of Methoxsalen
DB00553
Delta Brand of Methoxsalen
Deltasoralen
Dermatech Brand of Methoxsalen
Dermox
DivK1c_000763
EINECS 206-066-9
FT-0082222
Galderma Brand of Methoxsalen
Geroxalen
HMS1569O20
HMS1920N05
HMS2091D20
HMS502G05
HSDB 2505
I06-0695
ICN Brand 1 of Methoxsalen
ICN Brand 2 of Methoxsalen
ICN Brand 3 of Methoxsalen
IDI1_000763
Jsp005650
KBio1_000763
KBio2_001503
KBio2_004071
KBio2_006639
KBio3_001497
KBioGR_000543
KBioSS_001503
LS-68
M3501_FLUKA
M3501_SIAL
MEGxp0_000095
MLS000062633
 
MLS002303011
Meladinin
Meladinin (VAN)
Meladinina
Meladinine
Meladoxen
Meloxine
Methoxa Dome
Methoxa-Dome
Methoxalen
Methoxaten
Methoxsalen
Methoxsalen (JP15/USP)
Methoxsalen Canderm Brand
Methoxsalen Chinoin Brand
Methoxsalen Delta Brand
Methoxsalen Dermatech Brand
Methoxsalen Mex-America Brand
Methoxsalen Sanofi-Synthelabo Brand
Methoxsalen [BAN:JAN]
Methoxsalen plus ultraviolet radiation
Methoxsalen with ultra-violet A theraphy
Methoxy-8-psoralen
Mex America Brand of Methoxsalen
Mex-America Brand of Methoxsalen
MolPort-000-696-480
Méthoxsalène
NCGC00016418-01
NCGC00060938-02
NCGC00060938-03
NCGC00060938-04
NCGC00060938-05
NCGC00060938-06
NCGC00178871-01
NCGC00178871-02
NCGC00178871-03
NCI-C55903
NCI60_004085
NINDS_000763
NSC 45923
NSC45923
New-Meladinin
O-Methylxanthotoxol
O-methylxanthotoxol
OXSORALEN (TN)
Oprea1_166319
Oxoralen
Oxsoralen
Oxsoralen Lotion
Oxsoralen Ul tra
Oxsoralen Ultra
Oxsoralen lotion
Oxsoralen-Ultra
Oxsoralen-ultra
Oxypsoralen
Prestwick0_000479
Prestwick1_000479
Prestwick2_000479
Prestwick3_000479
Prestwick_661
Proralone-Mop
Proralone-mop
Psoralen-Mop
Psoralen-mop
Psoralon-MOP
Puvalen
Puvamet
S1952_Selleck
SAM002548974
SDCCGMLS-0042377.P002
SMR000071170
SPBio_001004
SPBio_002557
SPECTRUM1500400
STK735539
STOCK1N-03091
Sanofi Synthelabo Brand of Methoxsalen
Sanofi-Synthelabo Brand of Methoxsalen
Spectrum2_001052
Spectrum3_000499
Spectrum4_000052
Spectrum5_001891
Spectrum_001023
UNII-U4VJ29L7BQ
Ultra Mop
Ultra mop
Ultramop
Ultramop Lotion
Uvadex
WLN: T C566 DO LVOJ BO1
X0009
XANTHOTOXIN
Xanthotoxin
Xanthotoxine
Xanthoxin
ZINC02548959
Zanthotoxin
an 8-methoxyfurocoumarin
methoxsalen
2Photosensitizing AgentsPhase 2476
3Dermatologic AgentsPhase 25674

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa AcquisitaCompletedNCT00004359Phase 2
2Establishment of the National Epidermolysis Bullosa RegistryCompletedNCT00004761
3Genetic Susceptibility and Influence of the Microbiomae in Bullous PemphigoidRecruitingNCT02874079
4Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin DiseasesRecruitingNCT01952275

Search NIH Clinical Center for Epidermolysis Bullosa Acquisita


Cochrane evidence based reviews: epidermolysis bullosa acquisita

Genetic Tests for Epidermolysis Bullosa Acquisita

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Anatomical Context for Epidermolysis Bullosa Acquisita

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MalaCards organs/tissues related to Epidermolysis Bullosa Acquisita:

36
Skin, Neutrophil, T cells, B cells, Testes, Lymph node, Myeloid

Publications for Epidermolysis Bullosa Acquisita

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Articles related to Epidermolysis Bullosa Acquisita:

(show top 50)    (show all 394)
idTitleAuthorsYear
1
Long-term results of rituximab-intravenous immunoglobulin combination therapy in patients with epidermolysis bullosa acquisita resistant to conventional therapy. (27161164)
2016
2
Clinical and immunological studies for 105 Japanese seropositive patients of epidermolysis bullosa acquisita examined at Kurume University. (27247994)
2016
3
Discovering potential drug-targets for personalized treatment of autoimmune disorders - what we learn from epidermolysis bullosa acquisita. (26838687)
2016
4
Childhood epidermolysis bullosa acquisita during squaric acid dibutylester (SADBE) immunotherapy for alopecia areata. (27208509)
2016
5
Oral colchicine monotherapy for epidermolysis bullosa acquisita: Mechanism of action and efficacy. (27153772)
2016
6
T cells mediate autoantibody-induced cutaneous inflammation and blistering in epidermolysis bullosa acquisita. (27917914)
2016
7
Epidermolysis bullosa acquisita associated with dysphagia and stricture of esophagus. (27643544)
2016
8
An autoimmune bullous dermatosis with clinical, histopathological, and immunological features of bullous pemphigoid and epidermolysis bullosa acquisita in an adult. (26989994)
2016
9
Childhood Epidermolysis Bullosa Acquisita: Confirmation of Diagnosis by Skin Deficient in Type VII Collagen, Enzyme-linked Immunosorbent Assay, and Immunoblotting. (27293257)
2016
10
Clinical features and diagnosis of epidermolysis bullosa acquisita. (27580464)
2016
11
Coexistence of acquired hemophilia A and epidermolysis bullosa acquisita: Two case reports and published work review. (27511892)
2016
12
The use of Biochip immunofluorescence microscopy for the serological diagnosis of epidermolysis bullosa acquisita. (26895535)
2016
13
Cytoskeletal Regulation of Inflammation and Its Impact on Skin Blistering Disease Epidermolysis Bullosa Acquisita. (27420054)
2016
14
Reduced skin blistering in experimental epidermolysis bullosa acquisita after anti-TNF treatment. (27999842)
2016
15
Epidermolysis Bullosa Acquisita: From Pathophysiology to Novel Therapeutic Options. (26763420)
2016
16
Myeloid-related proteins-8 and -14 are expressed but dispensable in the pathogenesis of experimental epidermolysis bullosa acquisita and bullous pemphigoid. (26692467)
2016
17
Comparison of 3 type VII collagen (C7) assays for serologic diagnosis of epidermolysis bullosa acquisita (EBA). (26947449)
2016
18
Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa. (26763454)
2016
19
PDE4 Inhibition as Potential Treatment ofA Epidermolysis Bullosa Acquisita. (27388992)
2016
20
Canine epidermolysis bullosa acquisita: a retrospective study of 20 cases. (26369402)
2015
21
IgM-type epidermolysis bullosa acquisita. (26285920)
2015
22
Skin microbiota-associated inflammation precedes autoantibody induced tissue damage in experimental epidermolysis bullosa acquisita. (26341384)
2015
23
Porphyria Cutanea Tarda Masquerading as Epidermolysis Bullosa Acquisita: A Report of Two Cases. (26269702)
2015
24
Radiosensitive Hematopoietic Cells Determine the Extent of Skin Inflammation in Experimental Epidermolysis Bullosa Acquisita. (26202985)
2015
25
Epidermolysis bullosa acquisita in a 17-year-old boy with Crohn's disease. (26163555)
2015
26
Epidermolysis Bullosa Acquisita Develops in Dominant Dystrophic Epidermolysis Bullosa. (26401585)
2015
27
Immune mechanism-targeted treatment of experimental epidermolysis bullosa acquisita. (26471717)
2015
28
Epidermolysis bullosa acquisita in a patient with psoriasis vulgaris. (26243636)
2015
29
Heat shock protein 90 is required for ex vivo neutrophil-driven autoantibody-induced tissue damage in experimental epidermolysis bullosa acquisita. (25739426)
2015
30
The retinoid-related orphan receptor alpha is essential for the end-stage effector phase of experimental epidermolysis bullosa acquisita. (25953430)
2015
31
A childhood subepidermal autoimmune bullous disease resembling mechanobullous epidermolysis bullosa acquisita. (25865032)
2015
32
Paraneoplastic Epidermolysis Bullosa Acquisita Associated with Thyroid Carcinoma. (26303980)
2015
33
Mycophenolate mofetil (MMF) in the treatment of epidermolysis bullosa acquisita (EBA) long-term follow-up. (27051767)
2015
34
Childhood Epidermolysis Bullosa Acquisita with Underlying Coeliac Disease. (25824338)
2015
35
The successful use of extracorporeal photopheresis in a 12-year-old patient with refractory epidermolysis bullosa acquisita. (25639865)
2015
36
Conditional depletion of mast cells has no impact on the severity of experimental epidermolysis bullosa acquisita. (25678008)
2015
37
Epidermolysis bullosa acquisita of MRSA skin carrier: a case of successful total hip arthroplasty. (25952910)
2015
38
Erythrodermic Epidermolysis Bullosa Acquisita. (25785509)
2015
39
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated with Neonatal Epidermolysis Bullosa Acquisita. (25790289)
2015
40
Inflammatory epidermolysis bullosa acquisita in a 4-year-old girl. (26046385)
2015
41
Recombinant Soluble CD32 Suppresses Disease Progression in Experimental Epidermolysis Bullosa Acquisita. (25330298)
2014
42
Effects of Intravenous Immunoglobulins on Mice with Experimental Epidermolysis Bullosa Acquisita. (25330299)
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
Epidermolysis bullosa acquisita-like eruption with anticollagen VII autoantibodies induced by d-penicillamine in Wilson disease. (24888462)
2014
46
Inflammatory epidermolysis bullosa acquisita effectively treated with minocycline. (24577587)
2014
47
Esophageal involvement in epidermolysis bullosa acquisita. (24975454)
2014
48
Images in clinical medicine. Epidermolysis bullosa acquisita. (23534583)
2013
49
Peristomal Epidermolysis Bullosa Acquisita in a Patient with Crohn's Disease. (24322876)
2013
50
Sensitivity of different assays for the serological diagnosis of epidermolysis bullosa acquisita: analysis of a cohort of 24 Italian patients. (24321031)
2013

Variations for Epidermolysis Bullosa Acquisita

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Expression for genes affiliated with Epidermolysis Bullosa Acquisita

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

Pathways for genes affiliated with Epidermolysis Bullosa Acquisita

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

idSuper pathwaysScoreTop Affiliating Genes
19.7ITGB4, LAMA3
2
Show member pathways
9.7ITGB4, LAMA3
39.5COL17A1, ITGB4
49.1HSP90AA1, ITGB4, LAMA3
5
Show member pathways
8.7COL17A1, DST, ITGB4, LAMA3
68.7COL17A1, DST, ITGB4, LAMA3
7
Show member pathways
8.4COL17A1, COL7A1, DST, ITGB4, LAMA3
8
Show member pathways
8.4COL17A1, COL7A1, DST, ITGB4, LAMA3
9
Show member pathways
8.0CD79A, COL17A1, COL7A1, ITGB4, LAMA3

GO Terms for genes affiliated with Epidermolysis Bullosa Acquisita

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

idNameGO IDScoreTop Affiliating Genes
1cell leading edgeGO:00312529.8DST, ITGB4
2basement membraneGO:00056049.2COL17A1, COL7A1, DST, LAMA3
3hemidesmosomeGO:00300569.1COL17A1, DST, ITGB4

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1endodermal cell differentiationGO:003598710.4COL7A1, LAMA3
2cell motilityGO:004887010.3DST, ITGB4
3integrin-mediated signaling pathwayGO:000722910.1DST, ITGB4
4extracellular matrix organizationGO:00301989.9COL7A1, ITGB4, LAMA3
5epidermis developmentGO:00085449.9COL17A1, COL7A1, LAMA3
6hemidesmosome assemblyGO:00315819.7COL17A1, ITGB4, LAMA3
7response to woundingGO:00096119.6DST, ITGB4
8cell adhesionGO:00071559.6COL7A1, DST, ITGB4, LAMA3

Sources for Epidermolysis Bullosa Acquisita

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet