MCID: EPD006
MIFTS: 46

Epidermolysis Bullosa Acquisita malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Acquisita

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Epidermolysis Bullosa Acquisita:

Name: Epidermolysis Bullosa Acquisita 11 46 13 52 48 37 66
Acquired Epidermolysis Bullosa 11 46 52
 
Eb Acquisita 46
Eba 46

Characteristics:

Orphanet epidemiological data:

52
epidermolysis bullosa acquisita:
Inheritance: Not applicable; Age of onset: Adult

Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

Disease Ontology11 DOID:4313
ICD1028 L12.3, L12.30
MeSH37 D016107
SNOMED-CT60 200911009, 2772003
NCIt43 C84690
Orphanet52 ORPHA46487
ICD10 via Orphanet29 L12.3

Summaries for Epidermolysis Bullosa Acquisita

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NIH Rare Diseases:46 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 Non-integrin membrane-ECM interactions and Alpha6-Beta4 Integrin Signaling Pathway. Affiliated tissues include skin, eye and neutrophil, and related mouse phenotypes are craniofacial and digestive/alimentary.

Wikipedia:69 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:

 52 (show all 10)
  • diabetes mellitus
  • hyperpigmentation of the skin
  • atypical scarring of skin
  • pruritus
  • milia
  • abnormality of the hair
  • abdominal pain
  • inflammation of the large intestine
  • abnormal blistering of the skin
  • nail dystrophy

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
MethoxsalenPhase 235298-81-74114
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

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
4Genetic Susceptibility and Influence of the Microbiomae in Bullous PemphigoidRecruitingNCT02874079

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:

34
Skin, Eye, Neutrophil, T cells, Lymph node, B cells, Testes

Animal Models for Epidermolysis Bullosa Acquisita or affiliated genes

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MGI Mouse Phenotypes related to Epidermolysis Bullosa Acquisita:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2COL7A1, ITGB4, LAMA3, SERPINH1
2MP:00053818.2COL7A1, IL2RA, ITGB4, LAMA3, SERPINH1
3MP:00053787.6COL7A1, IL2RA, ITGB4, LAMA3, RORA, SERPINH1
4MP:00107687.2COL7A1, HSP90AA1, IL2RA, ITGB4, LAMA3, RORA

Publications for Epidermolysis Bullosa Acquisita

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Articles related to Epidermolysis Bullosa Acquisita:

(show top 50)    (show all 392)
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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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
1basement membraneGO:00056049.8COL7A1, LAMA3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1endodermal cell differentiationGO:003598710.2COL7A1, LAMA3
2epidermis developmentGO:000854410.1COL7A1, LAMA3
3hemidesmosome assemblyGO:003158110.0ITGB4, LAMA3
4negative regulation of inflammatory responseGO:00507289.7IL2RA, RORA
5response to unfolded proteinGO:00069869.6HSP90AA1, SERPINH1
6extracellular matrix organizationGO:00301989.3COL7A1, ITGB4, LAMA3
7cell adhesionGO:00071559.1COL7A1, ITGB4, LAMA3

Molecular functions related to Epidermolysis Bullosa Acquisita according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:00048679.6COL7A1, SERPINH1

Sources for Epidermolysis Bullosa Acquisita

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet