MCID: JNC001
MIFTS: 47

Junctional Epidermolysis Bullosa malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Oral diseases categories

Aliases & Classifications for Junctional Epidermolysis Bullosa

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Aliases & Descriptions for Junctional Epidermolysis Bullosa:

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


Classifications:



External Ids:

Disease Ontology10 DOID:3209
MeSH36 D016109

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. last updated: 7/22/2011

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, Gamma 2), and among its related pathways are Inflammatory Response Pathway and Validated transcriptional targets of AP1 family members Fra1 and Fra2. Affiliated tissues include skin, eye and testes, and related mouse phenotypes are craniofacial and other.

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 ebj

Related Diseases for Junctional Epidermolysis Bullosa

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Diseases in the Junctional Epidermolysis Bullosa family:

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

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

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa, junctional, herlitz type31.2LAMA3, LAMB3, LAMC2
2epidermolysis bullosa, junctional, with pyloric stenosis30.6ITGA6, ITGB4
3epidermolysis bullosa, junctional, non-herlitz type30.0COL17A1, DST, ITGB4, LAMA3, LAMB3, LAMC2
4epidermolysis bullosa11.5
5epidermolysis bullosa with pyloric atresia10.9
6junctional epidermolysis bullosa inversa10.6
7generalized junctional epidermolysis bullosa, non-herlitz type10.6
8bullous pemphigoid10.6
9col17a1-related junctional epidermolysis bullosa10.6
10lama3-related junctional epidermolysis bullosa10.6
11lamb3-related junctional epidermolysis bullosa10.6
12lamc2-related junctional epidermolysis bullosa10.6
13late-onset junctional epidermolysis bullosa10.6
14localized junctional epidermolysis bullosa, non-herlitz type10.5
15late-onset localized junctional epidermolysis bullosa - intellectual disability10.5
16urethritis10.4
17pyloric stenosis10.4
18epidermolysis bullosa dystrophica, ad10.3
19kindler syndrome10.3
20amelogenesis imperfecta10.3
21protein-losing enteropathy10.3
22duodenitis10.3
23epidermolysis bullosa simplex10.3
24polycystic kidney disease10.3
25acute laryngitis10.3
26keratoacanthoma10.3
27kidney disease10.3
28laryngitis10.3
29muscular dystrophy10.3
30nephrotic syndrome10.3
31urethral stricture10.3
32duodenal atresia10.3
33rhabdoid tumor10.3
34maternal uniparental disomy of chromosome 110.3
35laryngoonychocutaneous syndrome10.1
36superficial epidermolytic ichthyosis10.0LAMA3, LAMB3, LAMC2
37epimerase deficiency galactosemia10.0ITGA6, ITGB4
38pemphigus and fogo selvagem9.9COL17A1, DST
39hard palate cancer9.9COL17A1, DST
40megaesophagus9.9COL17A1, DST
41ocular melanoma9.9ITGA6, ITGB4
42epiglottitis9.9COL17A1, DST
43lip cancer9.9COL17A1, DST
44aplasia cutis congenita dominant9.8ITGA6, ITGB4
45ichthyosis - hypotrichosis - sclerosing cholangitis9.8COL17A1, DST
46autoimmune disease of the nervous system9.8COL17A1, DST, LAMA3
47periodic limb movement disorder9.8COL17A1, DST, LAMC2
48bursitis9.8COL17A1, DST, LAMA3
49lichen planus pigmentosus9.8COL17A1, DST, ITGB4
50linear lichen planus9.8COL17A1, 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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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

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, Eye, Testes, Kidney

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:00053828.5ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
2MP:00053958.2DST, ITGA6, LAMC1, LAMC2
3MP:00053677.8DST, ITGA6, ITGB4, LAMC1, LAMC2
4MP:00053887.7ITGA6, ITGB4, LAMB3, LAMC1, LAMC2
5MP:00053817.6DST, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
6MP:00107716.9COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
7MP:00107686.3COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3

Publications for Junctional Epidermolysis Bullosa

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Articles related to Junctional Epidermolysis Bullosa:

(show top 50)    (show all 285)
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
Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. (9856855)
1998
33
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
34
Role of elevated alpha-fetoprotein in prenatal diagnosis of junctional epidermolysis bullosa and pyloric atresia. (7524513)
1994
35
Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. (8063286)
1994
36
Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia. (8291561)
1993
37
Nicein (BM-600) in junctional epidermolysis bullosa: polyclonal antibodies provide new clues for pathogenic role. (8228337)
1993
38
Treatment of chronic erosions of junctional epidermolysis bullosa with human epidermal allografts. (1607462)
1992
39
The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature. (1497363)
1992
40
Expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. (1402007)
1992
41
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. (2182874)
1990
42
GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa: results of a multicenter study. (2273105)
1990
43
Eye involvement in junctional epidermolysis bullosa. (2818285)
1989
44
Treatment of junctional epidermolysis bullosa with epidermal autografts. (3114337)
1987
45
The generalized atrophic benign form of junctional epidermolysis bullosa. Experience with four patients in the United States. (3521495)
1986
46
Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease. (3952029)
1986
47
Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. (3745934)
1986
48
Non-lethal junctional epidermolysis bullosa in two adult sisters. (4093948)
1985
49
Phenytoin and junctional epidermolysis bullosa. (3977324)
1985
50
Junctional epidermolysis bullosa in two siblings: clinical observations, collagen studies and electron microscopy. (6093844)
1984

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 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6LAMC1, LAMC2
29.6ITGB4, LAMA3
39.6LAMA3, LAMC1
49.3ITGA6, ITGB4
58.9COL17A1, ITGA6, ITGB4
68.8ITGA6, ITGB4, LAMC1
78.8LAMA3, LAMB3, LAMC1, LAMC2
88.8LAMA3, LAMB3, LAMC1, LAMC2
98.2ITGA6, LAMA3, LAMB3, LAMC1, LAMC2
108.2ITGA6, LAMA3, LAMB3, LAMC1, LAMC2
11
Show member pathways
8.2ITGA6, LAMA3, LAMB3, LAMC1, LAMC2
12
Show member pathways
7.6ITGA6, ITGB4, LAMA3, LAMB3, LAMC1, LAMC2
13
Show member pathways
7.6ITGA6, ITGB4, LAMA3, LAMB3, LAMC1, LAMC2
147.6ITGA6, ITGB4, LAMA3, LAMB3, LAMC1, LAMC2
15
Show member pathways
7.6ITGA6, ITGB4, LAMA3, LAMB3, LAMC1, LAMC2
16
Show member pathways
7.2COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC1
17
Show member pathways
7.2COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC1
18
Show member pathways
7.2COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC1
19
Show member pathways
6.9COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
20
Show member pathways
6.9COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
21
Show member pathways
6.4COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
22
Show member pathways
6.4COL17A1, 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
1integrin complexGO:000830510.0ITGA6, ITGB4
2laminin-5 complexGO:00056109.9LAMA3, LAMB3, LAMC2
3basal plasma membraneGO:00099259.0DST, ITGA6, ITGB4
4cell leading edgeGO:00312528.8DST, ITGB4
5hemidesmosomeGO:00300568.6COL17A1, DST, ITGA6, ITGB4
6extracellular regionGO:00055768.4COL17A1, LAMA3, LAMB3, LAMC1, LAMC2
7basement membraneGO:00056046.3COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1endodermal cell differentiationGO:003598710.1LAMA3, LAMB3
2amelogenesisGO:009718610.0ITGA6, ITGB4
3nail developmentGO:003587810.0ITGA6, ITGB4
4brown fat cell differentiationGO:005087310.0ITGA6, LAMB3
5renal system developmentGO:00720019.9ITGA6, ITGB4
6filopodium assemblyGO:00468479.9ITGA6, ITGB4
7cell motilityGO:00488709.7DST, ITGB4
8response to woundingGO:00096119.7DST, ITGB4
9skin developmentGO:00435889.4ITGA6, ITGB4
10digestive tract developmentGO:00485659.4ITGA6, ITGB4
11epidermis developmentGO:00085449.4COL17A1, LAMA3, LAMB3, LAMC2
12cell-matrix adhesionGO:00071609.1COL17A1, ITGA6, ITGB4
13extracellular matrix disassemblyGO:00226178.4COL17A1, LAMA3, LAMB3, LAMC1, LAMC2
14integrin-mediated signaling pathwayGO:00072298.2DST, ITGA6, ITGB4
15cell junction assemblyGO:00343298.2COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
16cell adhesionGO:00071557.1DST, ITGA6, ITGB4, LAMA3, LAMB3, LAMC1
17hemidesmosome assemblyGO:00315816.9COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
18extracellular matrix organizationGO:00301986.4COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3

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