MCID: JNC001
MIFTS: 51

Junctional Epidermolysis Bullosa malady

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

Summaries for Junctional Epidermolysis Bullosa

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NIH Rare Diseases:41 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 with pyloric atresia and epidermolysis bullosa, 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 Validated transcriptional targets of AP1 family members Fra1 and Fra2 and Cytoskeleton remodeling Keratin filaments. The compounds calcipotriol and yigsr have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related mouse phenotypes are other and renal/urinary system.

Genetics Home Reference:21 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

Aliases & Classifications for Junctional Epidermolysis Bullosa

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Junctional Epidermolysis Bullosa, Aliases & Descriptions:

Name: Junctional Epidermolysis Bullosa 9 19 41 21 11 60
Epidermolysis Bullosa, Junctional 41 20 21
Jeb 41 21
Congenital Junctional Epidermolysis Bullosa 9
 
Epidermolysis Bullosa Atrophicans 41
Epidermolysis Bullosa Junctional 43
Ebj 41


Classifications:



External Ids:

Disease Ontology9 DOID:3209
MeSH33 D016109

Related Diseases for Junctional Epidermolysis Bullosa

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Diseases in the Junctional Epidermolysis Bullosa family:

Lamb3-Related Junctional Epidermolysis Bullosa Col17a1-Related Junctional Epidermolysis Bullosa
Lamc2-Related Junctional Epidermolysis Bullosa Lama3-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 55)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa with pyloric atresia31.8ITGB4, ITGA6
2epidermolysis bullosa31.6LAMC2, DST, ITGA6, ITGB4, COL17A1, KRT14
3epidermolysis bullosa, junctional, non-herlitz type31.5LAMB3, ITGB4, COL17A1
4epidermolysis bullosa, junctional, herlitz type31.5LAMA3, LAMB3, LAMC2
5bullous pemphigoid31.2COL17A1, ITGA6, DST
6epidermolysis bullosa simplex30.4KRT14, COL17A1, ITGB4, DST
7epidermolysis bullosa acquisita30.2LAMA3, LAMC2, LAD1, DST, ITGB4, COL17A1
8junctional epidermolysis bullosa inversa10.6
9late-onset junctional epidermolysis bullosa10.6
10cicatricial pemphigoid10.5COL17A1
11lamb3-related junctional epidermolysis bullosa10.5
12col17a1-related junctional epidermolysis bullosa10.5
13lamc2-related junctional epidermolysis bullosa10.5
14lama3-related junctional epidermolysis bullosa10.5
15localized junctional epidermolysis bullosa, non-herlitz type10.5
16late-onset localized junctional epidermolysis bullosa - intellectual disability10.5
17urethritis10.4
18pyloric stenosis10.4
19ocular cicatricial pemphigoid10.4ITGA6, ITGB4
20aplasia cutis congenita10.3ACHE
21kindler syndrome10.3
22epidermolysis bullosa, junctional, with pyloric stenosis10.3
23epidermolysis bullosa dystrophica, ad10.3
24amelogenesis imperfecta10.3
25protein-losing enteropathy10.3
26polycystic kidney disease10.3
27duodenitis10.3
28acute laryngitis10.3
29keratoacanthoma10.3
30kidney disease10.3
31laryngitis10.3
32muscular dystrophy10.3
33nephrotic syndrome10.3
34urethral stricture10.3
35duodenal atresia10.3
36rhabdoid tumor10.3
37mental retardation10.3
38gastric outlet obstruction10.3
39maternal uniparental disomy of chromosome 110.3
40herpes gestationis10.3COL17A1, DST
41skin disease10.2KRT14, COL17A1
42bullous skin disease10.2COL17A1, DST
43lichen planus10.2LAMC2, DST, COL17A1
44basal cell carcinoma10.1COL17A1, ITGB4, DST, LAMC2
45neurilemmoma10.1ACHE, ITGA6, ITGB4
46squamous cell carcinoma, head and neck10.0ITGA6, ITGB4, KRT14
47laryngoonychocutaneous syndrome10.0
48adenoma9.9LAMC2, ITGA6, ITGB4, KRT14
49ovarian cancer, somatic9.9ACHE, ITGA6, ITGB4, COL17A1
50lung cancer9.7LAMB1, ITGA6, KRT14

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 toenail 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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Drug clinical trials:

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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 Bullosa20 LAMC2

Anatomical Context for Junctional Epidermolysis Bullosa

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MalaCards organs/tissues related to Junctional Epidermolysis Bullosa:

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.3ITGA6, DST, LAMC2, LAMC1
2MP:00053679.1LAMC1, LAMC2, DST, ITGA6, ITGB4
3MP:00053779.0ACHE, ITGA6, ITGB4, KRT14, LAMC2
4MP:00053818.6ITGA6, LAMA3, DST, LAMB3, ITGB4, KRT14
5MP:00053828.6KRT14, ITGB4, ITGA6, LAMC2, LAMB3, LAMA3
6MP:00053888.5KRT14, ACHE, LAMB3, LAMC1, ITGB4, ITGA6
7MP:00107718.5KRT14, COL17A1, ITGB4, ITGA6, DST, LAMC2
8MP:00053918.4ACHE, ITGA6, ITGB4, KRT14, DST, LAMC1
9MP:00053787.5KRT14, EIF6, COL17A1, ACHE, DST, LAMA3
10MP:00107686.8KRT14, LAMA3, LAMB3, LAMC1, LAMC2, LAMB1

Publications for Junctional Epidermolysis Bullosa

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Articles related to Junctional Epidermolysis Bullosa:

(show top 50)    (show all 280)
idTitleAuthorsYear
1
Junctional Epidermolysis Bullosa with LAMB3 Splice-site Mutations. (25708563)
2015
2
Case of non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation. (25573436)
2015
3
First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse. (25889423)
2015
4
Somatic correction of junctional epidermolysis bullosa by a highly recombinogenic AAV variant. (24390279)
2014
5
Increased levels of matrix metalloproteinase-9 and interleukin-8 in blister fluids of dystrophic and junctional epidermolysis bullosa patients. (24533594)
2014
6
Neonatal junctional epidermolysis bullosa: treatment conundrums and ethical decision making. (25117154)
2014
7
Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice. (24550734)
2014
8
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
9
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. (21357940)
2011
10
Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature. (21624701)
2011
11
Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa. (20456391)
2010
12
Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome. (17362460)
2007
13
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
14
Junctional epidermolysis bullosa. Identification of a new mutation in two Lebanese families]. (16142104)
2005
15
Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa. (15324385)
2004
16
Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer. (12808440)
2003
17
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. (14705814)
2003
18
PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa. (12828862)
2003
19
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. (11907499)
2002
20
Junctional epidermolysis bullosa with pyloric stenosis. (11841649)
2001
21
Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis bullosa. (11359397)
2001
22
Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects. (11451332)
2001
23
Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings. (11174408)
2001
24
Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation. (11406649)
2001
25
Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. (10949552)
2000
26
Rudimentary hemidesmosome formation in congenital generalized junctional epidermolysis bullosa in the Sprague-Dawley rat. (10896395)
2000
27
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
28
Junctional epidermolysis bullosa in the neonate: a case report. (10442731)
1999
29
Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia. (9930337)
1998
30
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. (9501007)
1998
31
Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. (9856855)
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
Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. (8063286)
1994
34
Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia. (8291561)
1993
35
Nicein (BM-600) in junctional epidermolysis bullosa: polyclonal antibodies provide new clues for pathogenic role. (8228337)
1993
36
Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. (8307068)
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
GB3 monoclonal antibody for diagnosis of junctional epidermolysis bullosa. (2870344)
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 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0ITGB4, LAMA3
29.8KRT14, DST
39.7LAMC1, LAMB1
49.7LAMC1, LAMB1
59.7ITGB4, ITGA6, COL17A1
69.5LAMB1, LAMC1, LAMC2
79.5LAMB1, LAMC1, LAMA3
89.2ITGB4, ITGA6, LAMB1, LAMC1
99.0LAMC1, LAMB3, LAMB1, LAMC2, LAMA3
10
Show member pathways
Metalloproteases in connective tissue degradation
9.0LAMB1, LAMC2, LAMC1, LAMA3, LAMB3
118.7LAMB1, LAMB3, LAMA3, LAMC1, LAMC2, ITGA6
12
Show member pathways
8.7LAMB3, ITGA6, LAMC1, LAMC2, LAMA3, LAMB1
138.7LAMC1, LAMB1, LAMC2, ITGA6, LAMA3, LAMB3
14
Show member pathways
8.6DST, LAMA3, ITGB4, LAMB3, LAMC2, ITGA6
15
Show member pathways
8.6LAMA3, ITGB4, ITGA6, DST, LAMC2, LAMB3
16
Show member pathways
Proteogylcan syndecan-mediated signaling events36
8.5LAMC2, LAMC1, LAMB3, LAMA3, LAMB1, ITGA6
17
Show member pathways
8.5LAMC2, ITGA6, LAMB1, LAMC1, LAMB3, LAMA3
188.5LAMC1, ITGB4, LAMC2, LAMB1, LAMA3, LAMB3
19
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
8.5ITGA6, LAMC2, LAMC1, LAMB3, LAMB1, LAMA3
20
Show member pathways
8.2COL17A1, LAMB3, LAMC1, LAMC2, LAMB1, ITGB4
21
Show member pathways
8.2COL17A1, LAMB3, LAMC1, LAMA3, LAMC2, LAMB1
22
Show member pathways
8.2ITGB4, LAMC2, COL17A1, LAMA3, ITGA6, LAMB1
23
Show member pathways
7.9LAMB1, DST, ITGA6, ITGB4, COL17A1, LAMC1
24
Show member pathways
7.4ITGA6, ITGB4, DST, LAMA3, LAMB3, LAMC1

Compounds for genes affiliated with Junctional Epidermolysis Bullosa

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

idCompoundScoreTop Affiliating Genes
1calcipotriol43 59 28 1212.8KRT14, ITGB4
2yigsr439.7LAMB1, ITGA6
3gold439.6COL17A1, DST, LAMC2
4hpvs439.5KRT14, ITGA6
5kalinin438.6ITGB4, ITGA6, DST, LAMC2, LAMC1, 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
1laminin-5 complexGO:00056109.9LAMC2, LAMB3, LAMA3
2cell leading edgeGO:00312529.9ITGB4, DST
3laminin-2 complexGO:00056079.8LAMB1, LAMC2
4basal plasma membraneGO:00099259.6ITGB4, ITGA6, DST
5laminin-1 complexGO:00056069.6LAMB1, LAMC1, LAMA3
6hemidesmosomeGO:00300569.5COL17A1, ITGB4, ITGA6, DST
7laminin-10 complexGO:00432599.4LAMB1, LAMC1
8extracellular regionGO:00055768.3COL17A1, ACHE, LAMB1, LAMC2, LAMC1, LAMB3
9basement membraneGO:00056048.2LAD1, LAMB1, LAMA3, DST, ITGA6, ITGB4

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cell motilityGO:00488709.9DST, ITGB4
2filopodium assemblyGO:00468479.8ITGB4, ITGA6
3cell-matrix adhesionGO:00071609.8COL17A1, ITGB4, ITGA6
4substrate adhesion-dependent cell spreadingGO:00344469.7LAMB1, LAMC1
5integrin-mediated signaling pathwayGO:00072299.7ITGB4, ITGA6, DST
6brown fat cell differentiationGO:00508739.6ITGA6, LAMB3
7response to woundingGO:00096119.6DST, ACHE, ITGB4
8epidermis developmentGO:00085449.3KRT14, COL17A1, LAMC2, LAMB3, LAMA3
9extracellular matrix disassemblyGO:00226179.0LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, COL17A1
10cell junction assemblyGO:00343298.9KRT14, COL17A1, ITGB4, ITGA6, LAMC2, LAMB3
11hemidesmosome assemblyGO:00315818.2KRT14, LAMA3, LAMB3, LAMC1, LAMC2, DST
12cell adhesionGO:00071558.2LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, DST
13extracellular matrix organizationGO:00301988.1LAMA3, LAMB3, COL17A1, ITGB4, ITGA6, DST

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

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid bindingGO:00432089.7LAMC1, LAMB1
2laminin bindingGO:00432369.5ITGA6, ACHE
3integrin bindingGO:00051789.3LAMB1, DST, ITGA6
4structural molecule activityGO:00051989.3LAMB3, LAMA3, LAD1, LAMB1
5protein bindingGO:00055157.3ITGA6, ACHE, DST, LAMB3, APLF, COL17A1

Products for genes affiliated with Junctional Epidermolysis Bullosa

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Sources for Junctional Epidermolysis Bullosa

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3CDC
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