MCID: JNC001
MIFTS: 52

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 11 22 46 23 24 13 66
Epidermolysis Bullosa, Junctional 46 24 25 37
Jeb 46 23 24
 
Congenital Junctional Epidermolysis Bullosa 11
Epidermolysis Bullosa Atrophicans 46
Epidermolysis Bullosa Junctional 48

Classifications:



External Ids:

Disease Ontology11 DOID:3209
MeSH37 D016109
NCIt43 C90598

Summaries for Junctional Epidermolysis Bullosa

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NIH Rare Diseases:46 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 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 integument and craniofacial.

Genetics Home Reference:24 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:

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 56)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa, junctional, herlitz type33.0LAMA3, LAMB3, LAMC2
2epidermolysis bullosa, junctional, with pyloric stenosis32.6ITGA6, ITGB4
3epidermolysis bullosa, junctional, non-herlitz type31.7COL17A1, ITGB4, LAMA3, LAMB3, LAMC2
4late-onset junctional epidermolysis bullosa12.3
5col17a1-related junctional epidermolysis bullosa12.3
6lama3-related junctional epidermolysis bullosa12.3
7lamb3-related junctional epidermolysis bullosa12.3
8lamc2-related junctional epidermolysis bullosa12.3
9epidermolysis bullosa with pyloric atresia11.8
10epidermolysis bullosa11.6
11epidermolysis bullosa, late-onset localized junctional, with mental retardation11.2
12bullous pemphigoid10.3
13large cell acanthoma10.2ITGB4, LAMA3
14pyloric stenosis10.1
15urethritis10.1
16laryngitis10.1
178p11.2 deletion syndrome10.1LAMA3, LAMB3, LAMC2
18esophageal atresia/tracheoesophageal fistula10.0ITGA6, ITGB4
19kindler syndrome10.0
20duodenal atresia10.0
21amelogenesis imperfecta10.0
22protein-losing enteropathy10.0
23nephrotic syndrome10.0
24urethral stricture10.0
25keratoacanthoma10.0
26epidermolysis bullosa simplex10.0
27kidney disease10.0
28duodenitis10.0
29polycystic kidney disease10.0
30acute laryngitis10.0
31muscular dystrophy10.0
32maternal uniparental disomy of chromosome 110.0
33aplasia cutis congenita of limbs recessive9.9ITGA6, ITGB4
34giant ganglionic hyperplasia9.9COL17A1, DST
35submandibular gland cancer9.8COL17A1, DST
36malignant histiocytosis9.8COL17A1, DST
37epidermolysis bullosa simplex superficialis9.8ITGA6, ITGB4
38puerperal pulmonary embolism9.8COL17A1, DST
39spinocerebellar ataxia 239.8DST, ITGB4
40tinea cruris9.7COL17A1, DST
41cirrhotic cardiomyopathy9.7COL17A1, DST
42sporotrichosis9.6COL17A1, DST
43diabetic macular edema9.6COL17A1, DST
44autism spectrum disorder9.5COL17A1, DST, LAMA3
45impetigo9.5COL17A1, DST, LAMA3
46geniculate herpes zoster9.5COL17A1, DST
47lichen sclerosus9.4COL17A1, DST, ITGB4
48microcephaly, holoprosencephaly, and intrauterine growth retardation9.4COL17A1, DST, ITGB4
49familial retinoblastoma9.4COL17A1, DST, ITGB4
50blood group incompatibility9.3COL17A1, DST

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
1ESSENCE Study: 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 Epidermolysis Bullosa, Junctional25
2 Junctional Epidermolysis Bullosa23 LAMC2

Anatomical Context for Junctional Epidermolysis Bullosa

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MalaCards organs/tissues related to Junctional Epidermolysis Bullosa:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
2MP:00053828.2ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
3MP:00053818.1ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
4MP:00053887.7ITGA6, ITGB4, LAMB3, LAMC1, LAMC2

Publications for Junctional Epidermolysis Bullosa

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Articles related to Junctional Epidermolysis Bullosa:

(show top 50)    (show all 295)
idTitleAuthorsYear
1
Child with Junctional Epidermolysis Bullosa, Hoarseness, and Nasal Obstruction Demonstrating Severe Laryngeal Stenosis. (27272670)
2016
2
Junctional Epidermolysis Bullosa with LAMB3 Splice-site Mutations. (25708563)
2015
3
Dermal eosinophilic infiltrate in junctional epidermolysis bullosa. (25950805)
2015
4
Case of non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation. (25573436)
2015
5
First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse. (25889423)
2015
6
Increased levels of matrix metalloproteinase-9 and interleukin-8 in blister fluids of dystrophic and junctional epidermolysis bullosa patients. (24533594)
2014
7
Neonatal junctional epidermolysis bullosa: treatment conundrums and ethical decision making. (25117154)
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
Junctional epidermolysis bullosa in a calf. (22362960)
2012
10
Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa. (20456391)
2010
11
Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. (20163412)
2010
12
Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy. (19416258)
2009
13
Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population. (17916201)
2008
14
Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome. (17362460)
2007
15
Novel human pathological mutations. Gene symbol: LAMA3. Disease: junctional epidermolysis bullosa. (18380027)
2007
16
Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa. (16417243)
2006
17
Junctional epidermolysis bullosa. Identification of a new mutation in two Lebanese families]. (16142104)
2005
18
Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa. (15324385)
2004
19
Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer. (12808440)
2003
20
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. (14705814)
2003
21
PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa. (12828862)
2003
22
A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa. (12943669)
2003
23
Treatment of two patients with Herlitz junctional epidermolysis bullosa with artificial skin bioequivalents. (12378197)
2002
24
Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa. (12366701)
2002
25
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. (11810295)
2002
26
Junctional epidermolysis bullosa with pyloric stenosis. (11841649)
2001
27
Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings. (11174408)
2001
28
Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation. (11406649)
2001
29
Gene correction of integrin beta4-dependent pyloric atresia-junctional epidermolysis bullosa keratinocytes establishes a role for beta4 tyrosines 1422 and 1440 in hemidesmosome assembly. (11522777)
2001
30
Non-Herlitz junctional epidermolysis bullosa without hair involvement associated with BP180 deficiency. (11244233)
2001
31
DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa. (11298117)
2001
32
Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. (10949552)
2000
33
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk. (10701857)
2000
34
Junctional epidermolysis bullosa in the neonate: a case report. (10442731)
1999
35
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. (9501007)
1998
36
Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. (9579554)
1998
37
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
38
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. (8824879)
1996
39
A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. (7849725)
1994
40
The genes for nicein/kalinin 125- and 100-kDa subunits, candidates for junctional epidermolysis bullosa, map to chromosomes 1q32 and 1q25-q31. (8088808)
1994
41
Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. (8307068)
1993
42
Junctional epidermolysis bullosa keratinocytes in culture display adhesive, structural, and functional abnormalities. (1717612)
1991
43
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. (2182874)
1990
44
GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa: results of a multicenter study. (2273105)
1990
45
Treatment of junctional epidermolysis bullosa with epidermal autografts. (3114337)
1987
46
Anaesthesia for children with junctional epidermolysis bullosa (letalis). (3608059)
1987
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
A case of junctional epidermolysis bullosa (Herlitz-Pearson) with corneal bullae. (6732658)
1984
50
Two cases of junctional epidermolysis bullosa (Herlitz-Pearson). (7378286)
1980

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 pathwaysScoreTop Affiliating Genes
19.6LAMC1, LAMC2
29.5ITGB4, LAMA3
39.5LAMA3, LAMC1
49.3ITGA6, ITGB4
59.0COL17A1, ITGA6, ITGB4
68.8ITGA6, ITGB4, LAMC1
78.7LAMA3, LAMB3, LAMC1, LAMC2
88.7LAMA3, LAMB3, LAMC1, LAMC2
9
Show member pathways
8.4ITGA6, ITGB4, LAMA3, LAMC1
108.1ITGA6, LAMA3, LAMB3, LAMC1, LAMC2
118.1ITGA6, LAMA3, LAMB3, LAMC1, LAMC2
12
Show member pathways
8.1ITGA6, LAMA3, LAMB3, LAMC1, LAMC2
13
Show member pathways
7.6ITGA6, ITGB4, LAMA3, LAMB3, LAMC1, LAMC2
14
Show member pathways
7.6ITGA6, ITGB4, LAMA3, LAMB3, LAMC1, LAMC2
15
Show member pathways
7.6ITGA6, ITGB4, LAMA3, LAMB3, LAMC1, LAMC2
16
Show member pathways
7.6ITGA6, ITGB4, LAMA3, LAMB3, LAMC1, LAMC2
177.6ITGA6, ITGB4, LAMA3, LAMB3, LAMC1, LAMC2
18
Show member pathways
7.2COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC1
19
Show member pathways
7.2COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC1
20
Show member pathways
7.2COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC1
21
Show member pathways
6.9COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
22
Show member pathways
6.9COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
23
Show member pathways
6.4COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
24
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
1laminin-5 complexGO:000561010.3LAMA3, LAMB3
2integrin complexGO:000830510.0ITGA6, ITGB4
3basal plasma membraneGO:00099259.6DST, ITGA6
4cell leading edgeGO:00312529.2DST, ITGB4
5hemidesmosomeGO:00300568.7COL17A1, DST, ITGA6, ITGB4
6extracellular regionGO:00055768.4COL17A1, LAMA3, LAMB3, LAMC1, LAMC2
7basement membraneGO:00056047.8COL17A1, DST, ITGA6, LAMA3, LAMB3, LAMC1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1endodermal cell differentiationGO:003598710.1LAMA3, LAMB3
2nail developmentGO:003587810.0ITGA6, ITGB4
3brown fat cell differentiationGO:005087310.0ITGA6, LAMB3
4renal system developmentGO:00720019.7ITGA6, ITGB4
5digestive tract developmentGO:00485659.7ITGA6, ITGB4
6amelogenesisGO:00971869.7ITGA6, ITGB4
7skin developmentGO:00435889.6ITGA6, ITGB4
8cell motilityGO:00488709.6DST, ITGB4
9response to woundingGO:00096119.5DST, ITGB4
10cell-matrix adhesionGO:00071609.3COL17A1, ITGA6, ITGB4
11epidermis developmentGO:00085449.3COL17A1, LAMA3, LAMB3, LAMC2
12extracellular matrix disassemblyGO:00226178.9LAMA3, LAMB3, LAMC1, LAMC2
13integrin-mediated signaling pathwayGO:00072298.5DST, ITGA6, ITGB4
14hemidesmosome assemblyGO:00315817.8COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC1
15extracellular matrix organizationGO:00301987.7ITGA6, ITGB4, LAMA3, LAMB3, LAMC1, LAMC2
16cell adhesionGO:00071557.1DST, ITGB4, LAMA3, LAMB3, LAMC1, LAMC2

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

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor I bindingGO:00319949.3ITGA6, ITGB4
2neuregulin bindingGO:00381329.0ITGA6, ITGB4

Sources for Junctional Epidermolysis Bullosa

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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