MCID: EPD006
MIFTS: 47

Epidermolysis Bullosa Acquisita malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Acquisita

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Epidermolysis Bullosa Acquisita:

Name: Epidermolysis Bullosa Acquisita 10 45 47 12 51 36 65
Acquired Epidermolysis Bullosa 10 45 51
 
Eb Acquisita 45
Eba 45

Characteristics:

Orphanet epidemiological data:

51
epidermolysis bullosa acquisita:
Inheritance: Not applicable; Age of onset: Adult

Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

Disease Ontology10 DOID:4313
ICD1027 L12.3, L12.30
MeSH36 D016107
SNOMED-CT59 200911009, 2772003
NCIt42 C84690
Orphanet51 46487
ICD10 via Orphanet28 L12.3
UMLS65 C0079293

Summaries for Epidermolysis Bullosa Acquisita

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NIH Rare Diseases:45 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 bullous systemic lupus erythematosus and epidermolysis bullosa, 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), 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, eye and prostate.

Wikipedia:68 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 for Epidermolysis Bullosa Acquisita

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Symptoms:

 51 (show all 11)
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • enanthema/aphtosa/aphta/leukoplakia
  • hair and scalp anomalies
  • follicular/erythematous/edematous papules/milium
  • nails anomalies
  • abnormal scarring/cheloids/hypertrophic scars
  • urticaria
  • pruritus/itching
  • thick skin/pachydermia/orange skin
  • intestinal/colonic anomaly
  • acute abdominal pain/colic

HPO human phenotypes related to Epidermolysis Bullosa Acquisita:

(show all 9)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 abnormal blistering of the skin hallmark (90%) HP:0008066
3 abnormality of the nail typical (50%) HP:0001597
4 atypical scarring of skin occasional (7.5%) HP:0000987
5 pruritus occasional (7.5%) HP:0000989
6 urticaria occasional (7.5%) HP:0001025
7 thickened skin occasional (7.5%) HP:0001072
8 abdominal pain occasional (7.5%) HP:0002027
9 abnormality of the intestine occasional (7.5%) HP:0002242

UMLS symptoms related to Epidermolysis Bullosa Acquisita:


coma blister

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 234298-81-74114
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
8-mop
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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa AcquisitaCompletedNCT00004359Phase 2
2Establishment of the National Epidermolysis Bullosa RegistryCompletedNCT00004761
3Observational 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:

33
Skin, Eye, Prostate, Neutrophil, B cells, Colon, Lung

Animal Models for Epidermolysis Bullosa Acquisita or affiliated genes

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MGI Mouse Phenotypes related to Epidermolysis Bullosa Acquisita:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Epidermolysis Bullosa Acquisita

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Articles related to Epidermolysis Bullosa Acquisita:

(show top 50)    (show all 387)
idTitleAuthorsYear
1
Long-term results of rituximab-intravenous immunoglobulin combination therapy in patients with epidermolysis bullosa acquisita resistant to conventional therapy. (27161164)
2016
2
Discovering potential drug-targets for personalized treatment of autoimmune disorders - what we learn from epidermolysis bullosa acquisita. (26838687)
2016
3
Childhood epidermolysis bullosa acquisita during squaric acid dibutylester (SADBE) immunotherapy for alopecia areata. (27208509)
2016
4
The retinoid-related orphan receptor alpha is essential for the end-stage effector phase of experimental epidermolysis bullosa acquisita. (25953430)
2015
5
A childhood subepidermal autoimmune bullous disease resembling mechanobullous epidermolysis bullosa acquisita. (25865032)
2015
6
Canine epidermolysis bullosa acquisita: a retrospective study of 20 cases. (26369402)
2015
7
Recombinant Soluble CD32 Suppresses Disease Progression in Experimental Epidermolysis Bullosa Acquisita. (25330298)
2014
8
Metabolite analysis distinguishes between mice with epidermolysis bullosa acquisita and healthy mice. (23800341)
2013
9
Clinical presentation, pathogenesis, diagnosis, and treatment of epidermolysis bullosa acquisita. (23956869)
2013
10
Epidermolysis bullosa acquisita and inflammatory bowel disease: a review of the literature. (23517353)
2013
11
Images in clinical medicine. Epidermolysis bullosa acquisita. (23534583)
2013
12
B cells, dendritic cells, and macrophages are required to induce an autoreactive CD4 helper T cell response in experimental epidermolysis bullosa acquisita. (23960233)
2013
13
Retrospective study of the clinical, histologic, and immunologic features of epidermolysis bullosa acquisita in 9 patients. (23895729)
2013
14
Peristomal Epidermolysis Bullosa Acquisita in a Patient with Crohn's Disease. (24322876)
2013
15
Epidermolysis bullosa acquisita. (23368767)
2013
16
A case of epidermolysis bullosa acquisita associated with laryngeal stenosis. (22215014)
2012
17
Accuracy of indirect immunofluorescence on sodium chloride-split skin in the differential diagnosis of bullous pemphigoid and epidermolysis bullosa acquisita. (22016274)
2011
18
Current concepts in the treatment of epidermolysis bullosa acquisita. (21254861)
2011
19
Could cytomegalovirus infection play a causative role in epidermolysis bullosa acquisita? (21659069)
2011
20
Metal sensitization precipitates skin blistering in epidermolysis bullosa acquisita. (20507396)
2010
21
Epidermolysis bullosa acquisita: what's new? (20507385)
2010
22
Inflammatory epidermolysis bullosa acquisita mimicking toxic epidermal necrolysis and dermatitis herpetiformis. (19663858)
2009
23
Crohn's disease, relapsing polychondritis and epidermolysis bullosa acquisita: an immune-mediated inflammatory syndrome. (18238795)
2008
24
Clinical response of severe mechanobullous epidermolysis bullosa acquisita to combined treatment with immunoadsorption and rituximab (anti-CD20 monoclonal antibodies). (17309999)
2007
25
A case of epidermolysis bullosa acquisita with autoantibody to anti-p200 pemphigoid antigen and exfoliative esophagitis. (16707891)
2006
26
Epidermolysis bullosa acquisita: diagnosis by fluorescence overlay antigen mapping and clinical response to high-dose intravenous immunoglobulin. (16309488)
2006
27
Granulocyte-derived elastase and gelatinase B are required for dermal-epidermal separation induced by autoantibodies from patients with epidermolysis bullosa acquisita and bullous pemphigoid. (15538734)
2004
28
Childhood epidermolysis bullosa acquisita with autoantibodies against all 3 structural domains of type VII collagen. (14988700)
2004
29
A patient with both bullous pemphigoid and epidermolysis bullosa acquisita: an example of intermolecular epitope spreading. (15243536)
2004
30
Anti-epiligrin cicatricial pemphigoid and epidermolysis bullosa acquisita: differentiation by use of indirect immunofluorescence microscopy. (12664017)
2003
31
Epidermolysis bullosa acquisita in childhood. (12692360)
2003
32
Novel localised variant of canine epidermolysis bullosa acquisita. (10718593)
2000
33
Treatment of epidermolysis bullosa acquisita with mycophenolate mofetil and autologous keratinocyte grafting. (10583185)
1999
34
Epidermolysis bullosa acquisita exacerbated by systemic estrogen and progesterone treatment and pregnancy. (9146549)
1997
35
Linear IgA disease with clinical and immunopathological features of epidermolysis bullosa acquisita. (9263315)
1997
36
Bullous pemphigoid and epidermolysis bullosa acquisita. Differentiation by fluorescence overlay antigen mapping. (8629822)
1996
37
Epidermolysis bullosa acquisita: report of a case with comparison of immunogold electron microscopy using pre- and postembedding labelling. (8745903)
1996
38
Successful treatment of epidermolysis bullosa acquisita using intravenous immunoglobulins. (7772494)
1995
39
Laryngeal manifestations of epidermolysis bullosa acquisita. (7646856)
1995
40
Epidermolysis bullosa acquisita with oesophageal stenosis. (1390148)
1992
41
Epidermolysis bullosa acquisita and associated symptomatic esophageal webs. (1998368)
1991
42
Direct immunofluorescence studies of sodium chloride-separated skin in the differential diagnosis of bullous pemphigoid and epidermolysis bullosa acquisita. (2180996)
1990
43
The presence of intra-lamina lucida blister formation in epidermolysis bullosa acquisita: possible role of leukocytes. (2642510)
1989
44
Epidermolysis bullosa acquisita in childhood. Differentiation from hereditary epidermolysis bullosa. (2662910)
1989
45
Epidermal basement membrane alterations in epidermolysis bullosa acquisita. (3074092)
1988
46
Epidermolysis bullosa acquisita antigen: relationship between the collagenase-sensitive and -insensitive domains. (2828479)
1988
47
Acidic glycosaminoglycans in cultured skin fibroblasts of a patient with epidermolysis bullosa acquisita. (7404577)
1980
48
Vitamin E treatment of epidermolysis bullosa acquisita. (1022216)
1976
49
Epidermolysis bullosa acquisita. Report of three cases and review of all published cases. (4321800)
1971
50

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
19.6ITGB4, LAMA3
2
Show member pathways
9.6ITGB4, LAMA3
39.5COL17A1, COL7A1
49.4COL17A1, ITGB4
5
Show member pathways
8.6COL17A1, COL7A1, ITGB4, LAMA3
6
Show member pathways
8.5COL17A1, DST, ITGB4, LAMA3
7
Show member pathways
8.5COL17A1, DST, ITGB4, LAMA3
8
Show member pathways
8.1COL17A1, COL7A1, DST, ITGB4, LAMA3
9
Show member pathways
8.1COL17A1, COL7A1, DST, ITGB4, LAMA3
10
Show member pathways
7.8CD79A, 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
1hemidesmosomeGO:00300569.8COL17A1, ITGB4
2basement membraneGO:00056049.7DST, LAMA3
3endoplasmic reticulum lumenGO:00057889.5COL17A1, COL7A1

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

idNameGO IDScoreTop Affiliating Genes
1hemidesmosome assemblyGO:00315819.8COL17A1, ITGB4
2response to woundingGO:00096119.7DST, ITGB4
3cell-matrix adhesionGO:00071609.7COL17A1, ITGB4
4extracellular matrix disassemblyGO:00226179.1COL17A1, COL7A1, LAMA3
5epidermis developmentGO:00085448.8COL17A1, COL7A1, LAMA3

Sources for Epidermolysis Bullosa Acquisita

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet