MCID: JNC001
MIFTS: 54

Junctional Epidermolysis Bullosa malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Junctional Epidermolysis Bullosa

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Aliases & Descriptions for Junctional Epidermolysis Bullosa:

Name: Junctional Epidermolysis Bullosa 10 21 45 22 23 12 65
Epidermolysis Bullosa, Junctional 45 23 36
Jeb 45 22 23
 
Epidermolysis Bullosa Junctional 47 24
Congenital Junctional Epidermolysis Bullosa 10
Epidermolysis Bullosa Atrophicans 45

Classifications:



External Ids:

Disease Ontology10 DOID:3209
MeSH36 D016109
NCIt42 C90598
UMLS65 C0079301

Summaries for Junctional Epidermolysis Bullosa

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NIH Rare Diseases:45 Junctional epidermolysis bullosa (jeb) is a type of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.  jeb is separated into two categories: the herlitz type and the non-herlitz type. the herlitz type of jeb is very severe, and individuals with this condition often do not survive infancy. the non-herlitz type includes several subtypes that cause mild to severe blistering of the skin present at birth or shortly thereafter.   jeb is inherited in an autosomal recessive pattern. it is caused by mutations in the lamb3, col17a1, or lamc2, and lama3 genes.there is no cure for jeb. treatment is focused on management of blistering and prevention of secondary infections. last updated: 2/9/2016

MalaCards based summary: Junctional Epidermolysis Bullosa, also known as epidermolysis bullosa, junctional, is related to epidermolysis bullosa, junctional, herlitz type and epidermolysis bullosa, junctional, with pyloric stenosis, and has symptoms including abnormality of dental enamel, abnormality of the fingernails and aplasia/hypoplasia of the skin. An important gene associated with Junctional Epidermolysis Bullosa is LAMC2 (Laminin Subunit Gamma 2), and among its related pathways are Validated transcriptional targets of AP1 family members Fra1 and Fra2 and Amoebiasis. Affiliated tissues include skin, lung and breast, and related mouse phenotypes are respiratory system and integument.

Genetics Home Reference:23 Junctional epidermolysis bullosa (JEB) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional epidermolysis bullosa into two main types: Herlitz JEB and non-Herlitz JEB. Although the types differ in severity, their features overlap significantly, and they can be caused by mutations in the same genes.

GeneReviews summary for NBK1125

Related Diseases for Junctional Epidermolysis Bullosa

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Diseases in the Junctional Epidermolysis Bullosa family:

Late-Onset Junctional Epidermolysis Bullosa Col17a1-Related Junctional Epidermolysis Bullosa
Lama3-Related Junctional Epidermolysis Bullosa Lamb3-Related Junctional Epidermolysis Bullosa
Lamc2-Related Junctional Epidermolysis Bullosa

Diseases related to Junctional Epidermolysis Bullosa via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa, junctional, herlitz type32.9LAMA3, LAMB3, LAMC2
2epidermolysis bullosa, junctional, with pyloric stenosis31.9ITGA6, ITGB4
3epidermolysis bullosa, junctional, non-herlitz type31.2COL17A1, ITGB4, LAMA3, LAMB3, LAMC2
4junctional epidermolysis bullosa inversa12.4
5late-onset junctional epidermolysis bullosa12.4
6generalized junctional epidermolysis bullosa, non-herlitz type12.4
7localized junctional epidermolysis bullosa, non-herlitz type12.2
8col17a1-related junctional epidermolysis bullosa12.2
9lama3-related junctional epidermolysis bullosa12.2
10lamb3-related junctional epidermolysis bullosa12.2
11lamc2-related junctional epidermolysis bullosa12.2
12late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome12.2
13epidermolysis bullosa with pyloric atresia11.9
14epidermolysis bullosa11.6
15superficial epidermolytic ichthyosis10.3LAMA3, LAMB3
16bullous pemphigoid10.3
17epidermolysis bullosa acquisita10.2
18pyloric stenosis10.1
19urethritis10.1
20lichen planus pigmentosus10.1COL17A1, DST
21pemphigus and fogo selvagem10.1COL17A1, DST
22localized lipodystrophy10.0COL17A1, ITGB4
23liver leiomyoma10.0COL17A1, DST
24chorea gravidarum10.0COL17A1, DST
25kindler syndrome10.0
26amelogenesis imperfecta10.0
27protein-losing enteropathy10.0
28nephrotic syndrome10.0
29urethral stricture10.0
30keratoacanthoma10.0
31laryngitis10.0
32epidermolysis bullosa simplex10.0
33kidney disease10.0
34duodenitis10.0
35polycystic kidney disease10.0
36acute laryngitis10.0
37muscular dystrophy10.0
38duodenal atresia10.0
39maternal uniparental disomy of chromosome 110.0
40gastroparesis9.9COL17A1, DST
41actinic lichen planus9.8ITGB4, LAMC2
42soft palate cancer9.8COL17A1, DST
43spinocerebellar ataxia 369.8COL17A1, ITGB4
44bartholin's duct cyst9.7COL17A1, DST
45pervasive developmental disorder9.7COL17A1, DST, LAMA3
46periodic limb movement disorder9.7COL17A1, DST, LAMC2
47impetigo herpetiformis9.7COL17A1, DST, LAMA3
48epimerase deficiency galactosemia9.7ITGA6, ITGB4
49ocular muscular dystrophy9.6ITGA6, ITGB4
50retinal cancer9.5COL17A1, DST, ITGB4

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



Diseases related to junctional epidermolysis bullosa

Symptoms for Junctional Epidermolysis Bullosa

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HPO human phenotypes related to Junctional Epidermolysis Bullosa:

(show all 27)
id Description Frequency HPO Source Accession
1 abnormality of dental enamel hallmark (90%) HP:0000682
2 abnormality of the fingernails hallmark (90%) HP:0001231
3 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
4 abnormal blistering of the skin hallmark (90%) HP:0008066
5 abnormality of the toenails hallmark (90%) HP:0008388
6 pruritus typical (50%) HP:0000989
7 subcutaneous hemorrhage typical (50%) HP:0001933
8 abnormality of the stomach typical (50%) HP:0002577
9 duodenal stenosis typical (50%) HP:0100867
10 recurrent urinary tract infections occasional (7.5%) HP:0000010
11 renal insufficiency occasional (7.5%) HP:0000083
12 limitation of joint mobility occasional (7.5%) HP:0001376
13 polyhydramnios occasional (7.5%) HP:0001561
14 alopecia occasional (7.5%) HP:0001596
15 toe syndactyly occasional (7.5%) HP:0001770
16 onycholysis occasional (7.5%) HP:0001806
17 anemia occasional (7.5%) HP:0001903
18 dehydration occasional (7.5%) HP:0001944
19 nausea and vomiting occasional (7.5%) HP:0002017
20 respiratory insufficiency occasional (7.5%) HP:0002093
21 finger syndactyly occasional (7.5%) HP:0006101
22 irregular hyperpigmentation occasional (7.5%) HP:0007400
23 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
24 laryngeal cyst occasional (7.5%) HP:0100640
25 sepsis occasional (7.5%) HP:0100806
26 corneal erosion occasional (7.5%) HP:0200020
27 skin ulcer occasional (7.5%) HP:0200042

Drugs & Therapeutics for Junctional Epidermolysis Bullosa

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 1, Phase 21386
2Gentamicins123
3Anti-Infective Agents17220
4Antibiotics, Antitubercular5971
5Anti-Bacterial Agents9140

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis BullosaRecruitingNCT02384460Phase 3
2Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB)TerminatedNCT00587223Phase 3
3Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis BullosaCompletedNCT02014376Phase 2
4Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis BullosaRecruitingNCT02323789Phase 1, Phase 2
5Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis BullosaActive, not recruitingNCT02090283
6Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis BullosaActive, not recruitingNCT02670330
7Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation PatientsEnrolling by invitationNCT02698735

Search NIH Clinical Center for Junctional Epidermolysis Bullosa


Cochrane evidence based reviews: epidermolysis bullosa, junctional

Genetic Tests for Junctional Epidermolysis Bullosa

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Genetic tests related to Junctional Epidermolysis Bullosa:

id Genetic test Affiliating Genes
1 Junctional Epidermolysis Bullosa22 LAMC2

Anatomical Context for Junctional Epidermolysis Bullosa

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MalaCards organs/tissues related to Junctional Epidermolysis Bullosa:

33
Skin, Lung, Breast, Liver, Eye, T cells, Endothelial

Animal Models for Junctional Epidermolysis Bullosa or affiliated genes

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MGI Mouse Phenotypes related to Junctional Epidermolysis Bullosa:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.1ITGA6, ITGB4, LAMB3, LAMC2
2MP:00107717.8ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
3MP:00053827.7ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
4MP:00053817.4ITGA6, ITGB4, LAMA3, LAMB3, LAMC2

Publications for Junctional Epidermolysis Bullosa

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Articles related to Junctional Epidermolysis Bullosa:

(show top 50)    (show all 293)
idTitleAuthorsYear
1
Junctional Epidermolysis Bullosa with LAMB3 Splice-site Mutations. (25708563)
2015
2
Dermal eosinophilic infiltrate in junctional epidermolysis bullosa. (25950805)
2015
3
Case of non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation. (25573436)
2015
4
Generalized severe junctional epidermolysis bullosa with congenital absence of skin in churra lambs. (26094555)
2015
5
First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse. (25889423)
2015
6
Somatic correction of junctional epidermolysis bullosa by a highly recombinogenic AAV variant. (24390279)
2014
7
Increased levels of matrix metalloproteinase-9 and interleukin-8 in blister fluids of dystrophic and junctional epidermolysis bullosa patients. (24533594)
2014
8
Neonatal junctional epidermolysis bullosa: treatment conundrums and ethical decision making. (25117154)
2014
9
Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice. (24550734)
2014
10
Junctional Epidermolysis Bullosa Incidence and Survival: 5-Year Experience of the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) Nurse Educator, 2007 to 2011. (23721227)
2013
11
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. (21357940)
2011
12
Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature. (21624701)
2011
13
Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa. (20456391)
2010
14
Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome. (17362460)
2007
15
Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects. (17344927)
2007
16
Junctional epidermolysis bullosa. Identification of a new mutation in two Lebanese families]. (16142104)
2005
17
Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa. (15324385)
2004
18
Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer. (12808440)
2003
19
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. (14705814)
2003
20
PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa. (12828862)
2003
21
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. (11907499)
2002
22
Junctional epidermolysis bullosa with pyloric stenosis. (11841649)
2001
23
Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis bullosa. (11359397)
2001
24
Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects. (11451332)
2001
25
Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings. (11174408)
2001
26
Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. (10949552)
2000
27
Rudimentary hemidesmosome formation in congenital generalized junctional epidermolysis bullosa in the Sprague-Dawley rat. (10896395)
2000
28
Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa: fetal skin biopsy using a 1-mm microendoscope. (10720872)
2000
29
Junctional epidermolysis bullosa in the neonate: a case report. (10442731)
1999
30
Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia. (9930337)
1998
31
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. (9501007)
1998
32
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. (8530087)
1995
33
Role of elevated alpha-fetoprotein in prenatal diagnosis of junctional epidermolysis bullosa and pyloric atresia. (7524513)
1994
34
Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. (8063286)
1994
35
Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia. (8291561)
1993
36
Nicein (BM-600) in junctional epidermolysis bullosa: polyclonal antibodies provide new clues for pathogenic role. (8228337)
1993
37
Treatment of chronic erosions of junctional epidermolysis bullosa with human epidermal allografts. (1607462)
1992
38
The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature. (1497363)
1992
39
Expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. (1402007)
1992
40
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. (2182874)
1990
41
GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa: results of a multicenter study. (2273105)
1990
42
Eye involvement in junctional epidermolysis bullosa. (2818285)
1989
43
Treatment of junctional epidermolysis bullosa with epidermal autografts. (3114337)
1987
44
The generalized atrophic benign form of junctional epidermolysis bullosa. Experience with four patients in the United States. (3521495)
1986
45
Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease. (3952029)
1986
46
Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. (3745934)
1986
47
Non-lethal junctional epidermolysis bullosa in two adult sisters. (4093948)
1985
48
Phenytoin and junctional epidermolysis bullosa. (3977324)
1985
49
Junctional epidermolysis bullosa in two siblings: clinical observations, collagen studies and electron microscopy. (6093844)
1984
50

Variations for Junctional Epidermolysis Bullosa

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Expression for genes affiliated with Junctional Epidermolysis Bullosa

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

Pathways for genes affiliated with Junctional Epidermolysis Bullosa

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

(show all 23)
idSuper pathwaysScoreTop Affiliating Genes
19.4ITGB4, LAMA3
29.2LAMA3, LAMB3, LAMC2
39.2LAMA3, LAMB3, LAMC2
49.0ITGA6, ITGB4
59.0ITGA6, ITGB4
69.0ITGA6, ITGB4
7
Show member pathways
8.6ITGA6, ITGB4, LAMA3
88.6COL17A1, ITGA6, ITGB4
98.3ITGA6, LAMA3, LAMB3, LAMC2
10
Show member pathways
8.3ITGA6, LAMA3, LAMB3, LAMC2
118.3ITGA6, LAMA3, LAMB3, LAMC2
12
Show member pathways
7.7ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
13
Show member pathways
7.7ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
147.7ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
15
Show member pathways
7.7ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
16
Show member pathways
7.7ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
17
Show member pathways
7.3COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
18
Show member pathways
7.3COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
19
Show member pathways
7.3COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
20
Show member pathways
6.7COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
21
Show member pathways
6.7COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
22
Show member pathways
6.7COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
23
Show member pathways
6.7COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3

GO Terms for genes affiliated with Junctional Epidermolysis Bullosa

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

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00056049.5DST, LAMA3
2hemidesmosomeGO:00300569.3COL17A1, ITGB4

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1response to woundingGO:00096119.6DST, ITGB4
2hemidesmosome assemblyGO:00315819.5COL17A1, ITGB4, LAMC2
3renal system developmentGO:00720019.4ITGA6, ITGB4
4digestive tract developmentGO:00485659.3ITGA6, ITGB4
5integrin-mediated signaling pathwayGO:00072299.3ITGA6, ITGB4
6cell junction assemblyGO:00343298.9ITGA6, ITGB4
7cell-matrix adhesionGO:00071608.9COL17A1, ITGA6, ITGB4
8extracellular matrix disassemblyGO:00226178.7COL17A1, LAMA3, LAMB3, LAMC2
9epidermis developmentGO:00085448.4COL17A1, LAMA3, LAMB3, LAMC2

Sources for Junctional Epidermolysis Bullosa

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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