MCID: EPD006
MIFTS: 46

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 breast cancer and adenocarcinoma, 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 lung.

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

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, Lung, Prostate, Colon, Neutrophil, Endothelial

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 374)
idTitleAuthorsYear
1
Effects of Intramuscular Electrical Stimulation Using Inversely Placed Electrodes on Myofascial Pain Syndrome in the Shoulder: A Case Series. (27103970)
2016
2
Retrospective cohort study on hearing outcome after transmastoid plugging in superior semicircular canal dehiscence syndrome. (26382590)
2015
3
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss. (26358973)
2015
4
Metal Ion-dependent Heavy Chain Transfer Activity of TSG-6 Mediates Assembly of the Cumulus-Oocyte Matrix. (26468290)
2015
5
NPM1 mutations may reveal acute myeloid leukemia in cases otherwise morphologically diagnosed as myelodysplastic syndromes or myelodysplastic/myeloproliferative neoplasms. (25813079)
2015
6
E2F1-regulated DROSHA promotes miR-630 biosynthesis in cisplatin-exposed cancer cells. (24909689)
2014
7
Management of positional plagiocephaly--helmet or no helmet? (24864022)
2014
8
Unusual case of chondroblastic osteosarcoma of the rib in an adult. (24887843)
2013
9
Heterogeneity of axonal pathology in Chinese patients with giant axonal neuropathy. (24273072)
2013
10
Innate immunity in chronic viral hepatitis]. (23648529)
2013
11
IL28B rs12979860 polymorphism does not influence outcomes of hepatitis B virus infection. (22239156)
2012
12
Immunohistochemical analysis of thymic carcinoma focusing on the possibility of molecular targeted and hormonal therapies. (23054618)
2012
13
Early dental arch relationships as treatment outcome in children with complete unilateral cleft lip and palate in northeastern Thailand. (22423417)
2011
14
Management of perforated peptic ulcer in a district general hospital. (22041238)
2011
15
Pterygium recurrence after excision with conjunctival autograft: a comparison of fibrin tissue adhesive to absorbable sutures. (19092404)
2009
16
A mechanism for the suppression of interleukin-1-induced nuclear factor kappaB activation by protein phosphatase 2Ceta-2. (19594441)
2009
17
The transient receptor potential channels TRPP2 and TRPC1 form a heterotetramer with a 2:2 stoichiometry and an alternating subunit arrangement. (19850920)
2009
18
Emerging roles of Abl family tyrosine kinases in microbial pathogenesis. (18182299)
2008
19
Autophagy activation by rapamycin eliminates mouse Mallory-Denk bodies and blocks their proteasome inhibitor-mediated formation. (18454506)
2008
20
Evaluation of the association with cervical cancer of polymorphisms in syndecan-1, a heparan sulfate proteoglycan involved with viral cell entry. (18006945)
2007
21
Low salivary dehydroepiandrosterone and androgen-regulated cysteine-rich secretory protein 3 levels in SjAPgren's syndrome. (17665393)
2007
22
Indices of low-grade chronic inflammation in polycystic ovary syndrome and the beneficial effect of metformin. (16497699)
2006
23
A monomeric human apolipoprotein E carboxyl-terminal domain. (15109264)
2004
24
Type XIX collagen purified from human umbilical cord is characterized by multiple sharp kinks delineating collagenous subdomains and by intermolecular aggregates via globular, disulfide-linked, and heparin- binding amino termini. (12788917)
2003
25
Recognition of cell surface acceptors by two human alpha-2,6-sialyltransferases produced in CHO cells. (12770770)
2003
26
Clarification of risk factors for hepatectomy in patients with hepatocellular carcinoma. (12397750)
2002
27
Molecular architecture of SMC proteins and the yeast cohesin complex. (11983169)
2002
28
Cutaneous inoculation blastomycosis. (11981746)
2002
29
Methamphetamine induces AP-1 and NF-kappaB binding and transactivation in human brain endothelial cells. (11746378)
2001
30
Recognition and ubiquitination of Notch by Itch, a hect-type E3 ubiquitin ligase. (10940313)
2000
31
Lack of association between hyperprolactinemia and colon carcinoma. (10705875)
2000
32
Transcriptional regulation by cyclic AMP-responsive factors. (10697414)
2000
33
Role of retinoic acid in lens regeneration. (11084658)
2000
34
The effect of benign and malignant liver disease on the tumour markers CA19-9 and CEA. (9463746)
1998
35
Tumour necrosis factor-alpha induces cyclo-oxygenase-2 gene expression in first trimester trophoblasts: suppression by glucocorticoids and NSAIDs. (9290146)
1997
36
Cytotoxic cell antigen expression in anaplastic large cell lymphomas of T- and null-cell type and Hodgkin's disease: evidence for distinct cellular origin. (9028330)
1997
37
A case of Epstein-Barr virus infection with exophthalmos and ocular muscle swelling. (9447760)
1997
38
Effects of insulin administration on beta-cell function in subjects at high risk for type I diabetes mellitus. (8692024)
1996
39
Borna disease virus and the consumption of raw horse meat. (8782439)
1996
40
Tumor suppressor p53 is a direct transcriptional activator of the human bax gene. (7834749)
1995
41
Prostate specific antigen density in patients with histologically proven prostate carcinoma. (7525041)
1994
42
A human small cell lung carcinoma cell line, resistant to 4'-(9-acridinylamino)-methanesulfon-m-anisidide and cross-resistant to camptothecin with a high level of topoisomerase I. (8093110)
1994
43
Cloning and functional characterisation of the human TRH receptor. (8243797)
1993
44
Transforming DNA sequences present in human prolactin-secreting pituitary tumors. (1779971)
1991
45
Skeletal angiomatosis limited to the hand: radiographic and scintigraphic correlation. (1919731)
1991
46
Invasive squamous cell carcinoma initially diagnosed as a giant keratoacanthoma. (6368620)
1984
47
Hypohidrotic ectodermal dysplasia: a case report. (292770)
1979
48
Filariasis diagnosed by cytologic examination of hydrocele fluid. (4129938)
1974
49
Cigarette smoking and arteriosclerosis obliterans: an epidemiologic approach. (5007359)
1972
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