JEB
MCID: JNC001
MIFTS: 59

Junctional Epidermolysis Bullosa (JEB) malady

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

Summaries for Junctional Epidermolysis Bullosa

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NIH Rare Diseases:42 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 junctional epidermolysis bullosa, herlitz type, 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, testes and eye, and related mouse phenotypes are other and renal/urinary system.

Genetics Home Reference:22 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 20 42 22 11 61
Epidermolysis Bullosa, Junctional 42 21 22
Congenital Junctional Epidermolysis Bullosa 9 61
 
Jeb 42 22
Epidermolysis Bullosa Atrophicans 42
Epidermolysis Bullosa Junctional 44


Classifications:



External Ids:

Disease Ontology9 DOID:3209
MeSH34 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/GeneDecks gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa with pyloric atresia31.9ITGA6, ITGB4
2junctional epidermolysis bullosa, herlitz type31.6LAMA3, LAMC2, LAMB3
3junctional epidermolysis bullosa, non-herlitz type31.6LAMB3, ITGB4, COL17A1
4epidermolysis bullosa31.6KRT14, LAMA3, LAMB3, LAMC2, DST, ITGA6
5bullous pemphigoid31.2ITGA6, COL17A1, DST
6epidermolysis bullosa simplex30.4COL17A1, DST, ITGB4, KRT14
7epidermolysis bullosa acquisita30.2LAMA3, LAMC2, LAD1, DST, ITGB4, COL17A1
8mucous membrane pemphigoid10.5COL17A1
9junctional epidermolysis bullosa inversa10.5
10late-onset localized junctional epidermolysis bullosa - intellectual disability10.5
11late-onset junctional epidermolysis bullosa10.5
12urethritis10.4
13pyloric stenosis10.4
14lamb3-related junctional epidermolysis bullosa10.4
15col17a1-related junctional epidermolysis bullosa10.4
16lamc2-related junctional epidermolysis bullosa10.4
17lama3-related junctional epidermolysis bullosa10.4
18epidermolysis bullosa, junctional, with pyloric stenosis10.4
19ocular cicatricial pemphigoid10.4ITGA6, ITGB4
20epidermolysis bullosa simplex with pyloric atresia10.4ITGB4, ITGA6
21aplasia cutis congenita10.3ACHE
22amelogenesis imperfecta10.3
23polycystic kidney disease10.3
24protein-losing enteropathy10.3
25duodenitis10.3
26congenital muscular dystrophy10.3
27keratoacanthoma10.3
28kidney disease10.3
29muscular dystrophy10.3
30nephrotic syndrome10.3
31urethral stricture10.3
32duodenal atresia10.3
33kindler syndrome10.3
34rhabdoid tumor10.3
35mental retardation10.3
36epidermolysis bullosa dystrophica, ad10.3
37gastric outlet obstruction10.3
38maternal uniparental disomy of chromosome 110.3
39herpes gestationis10.3COL17A1, DST
40skin disease10.3COL17A1, KRT14
41bullous skin disease10.2COL17A1, DST
42lichen planus10.2LAMC2, COL17A1, DST
43basal cell carcinoma10.1DST, ITGB4, COL17A1, LAMC2
44neurilemmoma10.1ITGA6, ITGB4, ACHE
45laryngoonychocutaneous syndrome10.0
46squamous cell carcinoma of the head and neck10.0ITGA6, ITGB4, KRT14
47adenoma10.0KRT14, ITGB4, ITGA6, LAMC2
48ovarian cancer9.9ACHE, ITGB4, COL17A1, ITGA6
49colonic benign neoplasm9.9ITGA6, LAMC2, ACHE, ITGB4
50lung cancer9.8KRT14, ITGA6, LAMB1

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 Bullosa21 LAMC2

Anatomical Context for Junctional Epidermolysis Bullosa

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MalaCards organs/tissues related to Junctional Epidermolysis Bullosa:

32
Skin, Testes, Eye, Kidney

Animal Models for Junctional Epidermolysis Bullosa or affiliated genes

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MGI Mouse Phenotypes related to Junctional Epidermolysis Bullosa:

36
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 274)
idTitleAuthorsYear
1
Somatic correction of junctional epidermolysis bullosa by a highly recombinogenic AAV variant. (24390279)
2014
2
Increased levels of matrix metalloproteinase-9 and interleukin-8 in blister fluids of dystrophic and junctional epidermolysis bullosa patients. (24533594)
2014
3
Neonatal junctional epidermolysis bullosa: treatment conundrums and ethical decision making. (25117154)
2014
4
Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice. (24550734)
2014
5
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
6
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. (21357940)
2011
7
Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature. (21624701)
2011
8
Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa. (20456391)
2010
9
Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome. (17362460)
2007
10
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
11
Junctional epidermolysis bullosa. Identification of a new mutation in two Lebanese families]. (16142104)
2005
12
Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa. (15324385)
2004
13
Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer. (12808440)
2003
14
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. (14705814)
2003
15
PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa. (12828862)
2003
16
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. (11907499)
2002
17
Junctional epidermolysis bullosa with pyloric stenosis. (11841649)
2001
18
Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis bullosa. (11359397)
2001
19
Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects. (11451332)
2001
20
Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings. (11174408)
2001
21
Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation. (11406649)
2001
22
Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. (10949552)
2000
23
Rudimentary hemidesmosome formation in congenital generalized junctional epidermolysis bullosa in the Sprague-Dawley rat. (10896395)
2000
24
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
25
Junctional epidermolysis bullosa in the neonate: a case report. (10442731)
1999
26
Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia. (9930337)
1998
27
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. (9501007)
1998
28
Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. (9856855)
1998
29
Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. (9579554)
1998
30
Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online. (10660342)
1998
31
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
32
Role of elevated alpha-fetoprotein in prenatal diagnosis of junctional epidermolysis bullosa and pyloric atresia. (7524513)
1994
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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Expression patterns in normal tissues for genes affiliated with Junctional Epidermolysis Bullosa

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Pathways for genes affiliated with Junctional Epidermolysis Bullosa

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Pathways related to Junctional Epidermolysis Bullosa according to GeneCards/GeneDecks:

(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
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 events37
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 adhesion37
Focal Adhesion37
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/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcipotriol44 60 29 1212.8KRT14, ITGB4
2yigsr449.7ITGA6, LAMB1
3gold449.6COL17A1, LAMC2, DST
4hpvs449.5ITGA6, KRT14
5kalinin448.6LAMA3, LAMB3, LAMC1, LAMC2, DST, ITGA6

GO Terms for genes affiliated with Junctional Epidermolysis Bullosa

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Cellular components related to Junctional Epidermolysis Bullosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1laminin-5 complexGO:0056109.9LAMC2, LAMB3, LAMA3
2cell leading edgeGO:0312529.9ITGB4, DST
3laminin-2 complexGO:0056079.8LAMB1, LAMC2
4basal plasma membraneGO:0099259.6ITGB4, ITGA6, DST
5laminin-1 complexGO:0056069.6LAMA3, LAMC1, LAMB1
6hemidesmosomeGO:0300569.5DST, ITGA6, ITGB4, COL17A1
7laminin-10 complexGO:0432599.4LAMB1, LAMC1
8extracellular regionGO:0055768.3LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, ACHE
9basement membraneGO:0056048.2COL17A1, LAMA3, LAMC1, LAMB1, LAD1, DST

Biological processes related to Junctional Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cell motilityGO:0488709.9DST, ITGB4
2filopodium assemblyGO:0468479.8ITGA6, ITGB4
3cell-matrix adhesionGO:0071609.8COL17A1, ITGB4, ITGA6
4substrate adhesion-dependent cell spreadingGO:0344469.7LAMC1, LAMB1
5integrin-mediated signaling pathwayGO:0072299.7ITGA6, DST, ITGB4
6brown fat cell differentiationGO:0508739.6LAMB3, ITGA6
7response to woundingGO:0096119.6ACHE, DST, ITGB4
8epidermis developmentGO:0085449.3LAMB3, COL17A1, KRT14, LAMA3, LAMC2
9extracellular matrix disassemblyGO:0226179.0LAMB3, LAMB1, LAMA3, LAMC1, LAMC2, COL17A1
10cell junction assemblyGO:0343298.8LAMA3, LAMB3, LAMC2, ITGA6, ITGB4, COL17A1
11hemidesmosome assemblyGO:0315818.2ITGA6, ITGB4, DST, LAMC2, LAMC1, LAMB3
12cell adhesionGO:0071558.2LAMA3, LAMB1, LAMC2, LAMC1, LAMB3, DST
13extracellular matrix organizationGO:0301988.1LAMB3, LAMC1, LAMC2, LAMB1, DST, LAMA3

Molecular functions related to Junctional Epidermolysis Bullosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid bindingGO:0432089.7LAMC1, LAMB1
2laminin bindingGO:0432369.5ACHE, ITGA6
3integrin bindingGO:0051789.3ITGA6, DST, LAMB1
4structural molecule activityGO:0051989.3LAD1, LAMB1, LAMB3, LAMA3
5protein bindingGO:0055157.3LAMB3, DST, ACHE, ITGA6, ITGB4, COL17A1

Products for genes affiliated with Junctional Epidermolysis Bullosa

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Sources for Junctional Epidermolysis Bullosa

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