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, 29ICD10, 30ICD10 via Orphanet, 38MeSH, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS
See all MalaCards sources

Aliases & Descriptions for Epidermolysis Bullosa Acquisita:

Name: Epidermolysis Bullosa Acquisita 11 47 53 49 38 13 67
Acquired Epidermolysis Bullosa 11 47 53
 
Eb Acquisita 47
Eba 47

Characteristics:

Orphanet epidemiological data:

53
epidermolysis bullosa acquisita:
Inheritance: Not applicable; Age of onset: Adult

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

Disease Ontology11 DOID:4313
ICD1029 L12.3, L12.30
MeSH38 D016107
SNOMED-CT61 200911009, 2772003
NCIt44 C84690
Orphanet53 ORPHA46487
ICD10 via Orphanet30 L12.3

Summaries for Epidermolysis Bullosa Acquisita

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Wikipedia:70 Epidermolysis bullosa acquisita is a chronic subepidermal blistering disease associated with... more...

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.

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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Human phenotypes related to Epidermolysis Bullosa Acquisita:

 63 53 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the oral cavity63 hallmark (90%) HP:0000163
2 abnormal blistering of the skin63 53 hallmark (90%) Very frequent (99-80%) HP:0008066
3 abnormality of the nail63 typical (50%) HP:0001597
4 atypical scarring of skin63 53 occasional (7.5%) Occasional (29-5%) HP:0000987
5 pruritus63 53 occasional (7.5%) Occasional (29-5%) HP:0000989
6 urticaria63 occasional (7.5%) HP:0001025
7 thickened skin63 occasional (7.5%) HP:0001072
8 abdominal pain63 53 occasional (7.5%) Occasional (29-5%) HP:0002027
9 abnormality of the intestine63 occasional (7.5%) HP:0002242
10 diabetes mellitus53 Occasional (29-5%)
11 hyperpigmentation of the skin53 Occasional (29-5%)
12 milia53 Frequent (79-30%)
13 abnormality of the hair53 Very frequent (99-80%)
14 inflammation of the large intestine53 Occasional (29-5%)
15 nail dystrophy53 Occasional (29-5%)

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 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:

35
Skin, Neutrophil, T cells, B cells, Testes, Lymph node, Myeloid

Animal Models for Epidermolysis Bullosa Acquisita or affiliated genes

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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
Canine epidermolysis bullosa acquisita: a retrospective study of 20 cases. (26369402)
2015
7
IgM-type epidermolysis bullosa acquisita. (26285920)
2015
8
Recombinant Soluble CD32 Suppresses Disease Progression in Experimental Epidermolysis Bullosa Acquisita. (25330298)
2014
9
Images in clinical medicine. Epidermolysis bullosa acquisita. (23534583)
2013
10
Peristomal Epidermolysis Bullosa Acquisita in a Patient with Crohn's Disease. (24322876)
2013
11
Sensitivity of different assays for the serological diagnosis of epidermolysis bullosa acquisita: analysis of a cohort of 24 Italian patients. (24321031)
2013
12
Diagnosis and disease severity assessment of epidermolysis bullosa acquisita by ELISA for anti-type VII collagen autoantibodies: an Italian multicentre study. (22913489)
2013
13
A case of epidermolysis bullosa acquisita associated with laryngeal stenosis. (22215014)
2012
14
Epidermolysis bullosa acquisita: autoimmunity to anchoring fibril collagen. (21955050)
2012
15
Could cytomegalovirus infection play a causative role in epidermolysis bullosa acquisita? (21659069)
2011
16
Epidermolysis bullosa acquisita with moderately severe Dysphagia due to esophageal strictures. (21716557)
2011
17
Diagnosis and clinical features of epidermolysis bullosa acquisita. (21605816)
2011
18
The many faces of epidermolysis bullosa acquisita after serration pattern analysis by direct immunofluorescence microscopy. (21457208)
2011
19
Epidermolysis bullosa acquisita: what's new? (20507385)
2010
20
Crohn's disease, relapsing polychondritis and epidermolysis bullosa acquisita: an immune-mediated inflammatory syndrome. (18238795)
2008
21
Clinical response of severe mechanobullous epidermolysis bullosa acquisita to combined treatment with immunoadsorption and rituximab (anti-CD20 monoclonal antibodies). (17309999)
2007
22
Epidermolysis bullosa acquisita. (17511948)
2007
23
Epidermolysis bullosa acquisita: diagnosis by fluorescence overlay antigen mapping and clinical response to high-dose intravenous immunoglobulin. (16309488)
2006
24
Epidermolysis bullosa acquisita. (16481730)
2006
25
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
26
Superpotent topical steroid therapy for epidermolysis bullosa acquisita. (15316178)
2004
27
Treatment of epidermolysis bullosa acquisita with mycophenolate mofetil and autologous keratinocyte grafting. (10583185)
1999
28
Linear IgA disease with clinical and immunopathological features of epidermolysis bullosa acquisita. (9263315)
1997
29
Epidermolysis bullosa acquisita diagnosed by direct immunoelectron microscopy of the conjunctiva. (9307635)
1997
30
Successful treatment of epidermolysis bullosa acquisita with mesalazine. (9274650)
1997
31
Epidermolysis bullosa acquisita: report of a case with comparison of immunogold electron microscopy using pre- and postembedding labelling. (8745903)
1996
32
Laryngeal manifestations of epidermolysis bullosa acquisita. (7646856)
1995
33
Childhood epidermolysis bullosa acquisita. (7857848)
1994
34
Epidermolysis bullosa acquisita in a 3 1/2-year-old girl. (1469146)
1992
35
Epidermolysis bullosa acquisita and associated symptomatic esophageal webs. (1998368)
1991
36
Epidermolysis bullosa acquisita antigen and the carboxy terminus of type VII collagen have a common immunolocalization to anchoring fibrils and lamina densa of basement membrane. (2354110)
1990
37
Epidermolysis bullosa acquisita in childhood. Differentiation from hereditary epidermolysis bullosa. (2662910)
1989
38
Epidermal basement membrane alterations in epidermolysis bullosa acquisita. (3074092)
1988
39
Epidermolysis bullosa acquisita antigen: relationship between the collagenase-sensitive and -insensitive domains. (2828479)
1988
40
Cyclosporine A in epidermolysis bullosa acquisita. (3429719)
1987
41
Epidermolysis bullosa acquisita antigen, a new major component of cutaneous basement membrane, is a glycoprotein with collagenous domains. (3519786)
1986
42
Epidermolysis bullosa acquisita. The search for identity. (3947122)
1986
43
The basement membrane autoantigen in epidermolysis bullosa acquisita. (6526557)
1984
44
Epidermolysis bullosa acquisita with pulmonary tuberculosis: a case report. (6883798)
1983
45
Epidermolysis bullosa acquisita: a heterogeneous disease. (7024335)
1981
46
Epidermolysis bullosa acquisita: ultrastructural and immunological studies. (7009764)
1981
47
The mechanobullous diseases. Hereditary epidermolysis bullosa and epidermolysis bullosa acquisita. (7033310)
1981
48
Epidermolysis bullosa acquisita: a clinical disorder of varied etiologies. Two cases and a review of immunologic and other reported findings. (7005274)
1980
49
Epidermolysis bullosa acquisita (tardive) and porphyria cutanea tarda: an analytic comparison of these two conditions. (13820497)
1959
50
Epidermolysis bullosa (acquisita). (21001303)
1946

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:00312529.6DST, ITGB4
2hemidesmosomeGO:00300569.3COL17A1, DST, ITGB4
3basement membraneGO:00056048.8COL17A1, COL7A1, DST, LAMA3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1endodermal cell differentiationGO:003598710.2COL7A1, LAMA3
2cell motilityGO:004887010.0DST, ITGB4
3response to woundingGO:00096119.9DST, ITGB4
4integrin-mediated signaling pathwayGO:00072299.7DST, ITGB4
5hemidesmosome assemblyGO:00315819.7COL17A1, ITGB4, LAMA3
6epidermis developmentGO:00085449.5COL17A1, COL7A1, LAMA3
7extracellular matrix organizationGO:00301989.3COL7A1, ITGB4, LAMA3
8cell adhesionGO:00071558.9COL7A1, DST, ITGB4, LAMA3

Sources for Epidermolysis Bullosa Acquisita

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet