MCID: JNC001
MIFTS: 48

Junctional Epidermolysis Bullosa

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

Aliases & Classifications for Junctional Epidermolysis Bullosa

MalaCards integrated aliases for Junctional Epidermolysis Bullosa:

Name: Junctional Epidermolysis Bullosa 12 23 50 24 25 14 69
Epidermolysis Bullosa, Junctional 50 25 29 42
Jeb 50 24 25
Congenital Junctional Epidermolysis Bullosa 12
Epidermolysis Bullosa Atrophicans 50
Epidermolysis Bullosa Junctional 52

Characteristics:

GeneReviews:

23
Penetrance Pathogenic variants in lamb3, lama3, lamc2, and col17a1 are 100% penetrant in individuals who have two variants on different alleles in the same gene...

Classifications:



External Ids:

Disease Ontology 12 DOID:3209
MeSH 42 D016109
NCIt 47 C90598
UMLS 69 C0079301

Summaries for Junctional Epidermolysis Bullosa

NIH Rare Diseases : 50 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, non-herlitz type. An important gene associated with Junctional Epidermolysis Bullosa is LAMC2 (Laminin Subunit Gamma 2), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Anti-Bacterial Agents and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and kidney, and related phenotypes are craniofacial and digestive/alimentary

Genetics Home Reference : 25 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: NBK1125

Related Diseases for Junctional Epidermolysis Bullosa

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 64)
id Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa, junctional, herlitz type 33.3 LAMA3 LAMB3 LAMC2
2 epidermolysis bullosa, junctional, non-herlitz type 29.7 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
3 late-onset junctional epidermolysis bullosa 12.3
4 junctional epidermolysis bullosa inversa 12.2
5 col17a1-related junctional epidermolysis bullosa 12.1
6 lama3-related junctional epidermolysis bullosa 12.1
7 lamb3-related junctional epidermolysis bullosa 12.1
8 lamc2-related junctional epidermolysis bullosa 12.1
9 localized junctional epidermolysis bullosa, non-herlitz type 12.1
10 epidermolysis bullosa, junctional, with pyloric stenosis 12.0
11 epidermolysis bullosa with pyloric atresia 11.7
12 epidermolysis bullosa 11.7
13 epidermolysis bullosa, late-onset localized junctional, with mental retardation 11.1
14 aplasia cutis congenita of limbs recessive 11.1
15 juvenile macular degeneration and hypotrichosis 10.3 LAMC1 LAMC2
16 squamous cell carcinoma 10.2
17 bullous pemphigoid 10.2
18 laryngitis 10.1
19 congenital ichthyosis-microcephalus-tetraplegia syndrome 10.1 LAMA3 LAMB3 LAMC2
20 pyloric stenosis 10.0
21 urethritis 10.0
22 fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome 10.0 ITGA6 ITGB4
23 aplasia cutis congenita recessive 9.9 ITGA6 ITGB4
24 kindler syndrome 9.9
25 duodenal atresia 9.9
26 amelogenesis imperfecta 9.9
27 protein-losing enteropathy 9.9
28 nephrotic syndrome 9.9
29 urethral stricture 9.9
30 keratoacanthoma 9.9
31 epidermolysis bullosa simplex 9.9
32 kidney disease 9.9
33 duodenitis 9.9
34 autosomal dominant polycystic kidney disease 9.9
35 acute laryngitis 9.9
36 muscular dystrophy 9.9
37 polycystic kidney disease 9.9
38 maternal uniparental disomy of chromosome 1 9.9
39 penis agenesis 9.9 COL17A1 DST
40 rectum carcinoma in situ 9.8 COL17A1 DST
41 epidermolysis bullosa simplex, ogna type 9.8 COL17A1 DST
42 epidermolysis bullosa simplex superficialis 9.8 ITGA6 ITGB4
43 acute vascular insufficiency of intestine 9.8 COL17A1 DST
44 peripheral nervous system neoplasm 9.8 COL17A1 DST
45 spinocerebellar ataxia 23 9.8 DST ITGB4
46 acute pulmonary heart disease 9.7 COL17A1 DST
47 classic hairy cell leukemia 9.6 COL17A1 DST
48 ureteral lymphoma 9.6 COL17A1 DST
49 dyskinesia of esophagus 9.6 COL17A1 DST
50 autism spectrum disorder 9.5 COL17A1 DST LAMA3

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



Diseases related to Junctional Epidermolysis Bullosa

Symptoms & Phenotypes for Junctional Epidermolysis Bullosa

MGI Mouse Phenotypes related to Junctional Epidermolysis Bullosa:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.65 LAMC2 ITGA6 ITGB4 LAMA3 LAMB3
2 digestive/alimentary MP:0005381 9.55 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
3 integument MP:0010771 9.35 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
4 respiratory system MP:0005388 9.1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2

Drugs & Therapeutics for Junctional Epidermolysis Bullosa

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Bacterial Agents Phase 1, Phase 2
2 Anti-Infective Agents Phase 1, Phase 2
3 Gentamicins Phase 1, Phase 2
4 Antibiotics, Antitubercular

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 ESSENCE Study: Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis Bullosa Completed NCT02384460 Phase 3 SD-101-6.0 cream;SD-101-0.0 cream
2 Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB) Terminated NCT00587223 Phase 3
3 Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis Bullosa Completed NCT02014376 Phase 2 3% SD-101 dermal cream;6% SD-101 dermal cream;Vehicle (0% SD-101)
4 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations Recruiting NCT03012191 Phase 1, Phase 2 Gentamicin Sulfate
5 Survey to Identify Burdens and Unmet Needs of Patients With Epidermolysis Bullosa Completed NCT03158662
6 Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis Bullosa Active, not recruiting NCT02090283 SD-101 dermal cream (6%)
7 Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis Bullosa Active, not recruiting NCT02670330 Zorblisa (SD-101-6.0) cream
8 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients Enrolling by invitation NCT02698735 Gentamicin;Placebo

Search NIH Clinical Center for Junctional Epidermolysis Bullosa

Cochrane evidence based reviews: epidermolysis bullosa, junctional

Genetic Tests for Junctional Epidermolysis Bullosa

Genetic tests related to Junctional Epidermolysis Bullosa:

id Genetic test Affiliating Genes
1 Epidermolysis Bullosa, Junctional 29
2 Junctional Epidermolysis Bullosa 24 LAMC2

Anatomical Context for Junctional Epidermolysis Bullosa

MalaCards organs/tissues related to Junctional Epidermolysis Bullosa:

39
Skin, Testes, Kidney, Eye

Publications for Junctional Epidermolysis Bullosa

Articles related to Junctional Epidermolysis Bullosa:

(show top 50) (show all 302)
id Title Authors Year
1
Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin EGF-like (LE) motif 2 of the I^3 short arm. ( 28561256 )
2017
2
Junctional Epidermolysis Bullosa (Non-Herlitz Type). ( 28599695 )
2017
3
Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa. ( 28365758 )
2017
4
Topical timolol for chronic wounds in patients with junctional epidermolysis bullosa. ( 27846969 )
2016
5
Images in Anesthesiology: Child with Junctional Epidermolysis Bullosa, Hoarseness, and Nasal Obstruction Demonstrating Severe Laryngeal Stenosis. ( 27755034 )
2016
6
Child with Junctional Epidermolysis Bullosa, Hoarseness, and Nasal Obstruction Demonstrating Severe Laryngeal Stenosis. ( 27272670 )
2016
7
Structural Defects of Laminin I^3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response. ( 27120332 )
2016
8
Molecular epidemiology of Junctional Epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance. ( 27480391 )
2016
9
Colchicine may assist in reducing granulation tissue in junctional epidermolysis bullosa. ( 28492007 )
2016
10
Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India. ( 28087116 )
2016
11
Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. ( 27607025 )
2016
12
Splicing abnormality of integrin I^4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome. ( 25728941 )
2015
13
Alternative Use of an Oral Endotracheal Tube Fastener in a Patient with Junctional Epidermolysis Bullosa. ( 26638453 )
2015
14
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4). ( 27186702 )
2015
15
Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa. ( 25935160 )
2015
16
Dermal eosinophilic infiltrate in junctional epidermolysis bullosa. ( 25950805 )
2015
17
Junctional Epidermolysis Bullosa with LAMB3 Splice-site Mutations. ( 25708563 )
2015
18
Generalized severe junctional epidermolysis bullosa with congenital absence of skin in churra lambs. ( 26094555 )
2015
19
Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep. ( 25955497 )
2015
20
First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse. ( 25889423 )
2015
21
Amelioration of junctional epidermolysis bullosa due to exon skipping. ( 26708078 )
2015
22
New versatile monoclonal antibodies against type XVII collagen endodomain for diagnosis and subtyping COL17A1-associated junctional epidermolysis bullosa. ( 26334130 )
2015
23
Case of non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation. ( 25573436 )
2015
24
A stop-gain in the laminin, alpha 3 gene causes recessive junctional epidermolysis bullosa in Belgian Blue cattle. ( 26370913 )
2015
25
A New Mouse Model of Junctional Epidermolysis Bullosa: The LAMB3 628 G>A Knockin Mouse. ( 25350318 )
2014
26
Japanese case of Herlitz junctional epidermolysis bullosa that initially showed a few blisters on the limited area. ( 24617447 )
2014
27
Congenital pyloric atresia, type B; with junctional epidermolysis bullosa. ( 24968903 )
2014
28
Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice. ( 24550734 )
2014
29
Long-term stability and safety of transgenic cultured epidermal stem cells in gene therapy of junctional epidermolysis bullosa. ( 24511464 )
2014
30
ITGB4-associated Junctional Epidermolysis Bullosa without Pylori Atresia but Profound Genito-urinary Involvement. ( 24807042 )
2014
31
Somatic correction of junctional epidermolysis bullosa by a highly recombinogenic AAV variant. ( 24390279 )
2014
32
Successful renal transplant in a patient with non-Herlitz junctional epidermolysis bullosa. ( 24635072 )
2014
33
Neonatal junctional epidermolysis bullosa: treatment conundrums and ethical decision making. ( 25117154 )
2014
34
Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa. ( 24533970 )
2014
35
Increased levels of matrix metalloproteinase-9 and interleukin-8 in blister fluids of dystrophic and junctional epidermolysis bullosa patients. ( 24533594 )
2014
36
A case of junctional epidermolysis bullosa with prurigo-like lesions and reduction of collagen XVII and filaggrin. ( 23834121 )
2013
37
Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation. ( 22674212 )
2013
38
ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations. ( 23013259 )
2013
39
Detection of novel LAMA3 mutation in Herlitz junctional epidermolysis bullosa in a Jordanian family. ( 22963541 )
2013
40
Punch grafting of chronic ulcers in patients with laminin-332-deficient, non-Herlitz junctional epidermolysis bullosa. ( 22633040 )
2013
41
Late-onset skin fragility in childhood: a case of junctional epidermolysis bullosa of late onset caused by a missense mutation in COL17A1. ( 23550562 )
2013
42
The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome. ( 24005051 )
2013
43
Laminin 332 in junctional epidermolysis bullosa. ( 23076207 )
2013
44
Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. ( 22931927 )
2013
45
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
46
Inherited junctional epidermolysis bullosa (Herlitz type) in German black-headed mutton sheep. ( 22000950 )
2012
47
Herlitz Junctional Epidermolysis Bullosa with a Novel Mutation in LAMB3. ( 23278291 )
2012
48
Upper airway complications of junctional epidermolysis bullosa. ( 22050875 )
2012
49
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin I^4 gene. ( 21969027 )
2012
50
Early intra-amniotic gene transfer using lentiviral vector improves skin blistering phenotype in a murine model of Herlitz junctional epidermolysis bullosa. ( 21938019 )
2012

Variations for Junctional Epidermolysis Bullosa

ClinVar genetic disease variations for Junctional Epidermolysis Bullosa:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL17A1 NM_000494.3(COL17A1): c.2407G> T (p.Gly803Ter) single nucleotide variant Pathogenic/Likely pathogenic rs752317971 GRCh37 Chromosome 10, 105803610: 105803610

Expression for Junctional Epidermolysis Bullosa

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

Pathways for Junctional Epidermolysis Bullosa

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

(show all 25)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1
2
Show member pathways
13.23 COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1
3
Show member pathways
12.87 COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1
4
Show member pathways
12.75 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2
5
Show member pathways
12.65 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2
6
Show member pathways
12.63 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
7 12.55 ITGA6 LAMA3 LAMB3 LAMC1 LAMC2
8 12.54 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2
9
Show member pathways
12.42 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
10
Show member pathways
12.21 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
11
Show member pathways
12.15 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2
12
Show member pathways
12.13 ITGA6 LAMA3 LAMB3 LAMC1 LAMC2
13
Show member pathways
12.1 ITGA6 ITGB4 LAMA3 LAMC1
14 11.82 LAMA3 LAMB3 LAMC1 LAMC2
15
Show member pathways
11.81 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2
16 11.73 ITGA6 LAMA3 LAMB3 LAMC1 LAMC2
17 11.58 LAMA3 LAMB3 LAMC1 LAMC2
18 11.41 ITGA6 ITGB4
19 11.37 LAMA3 LAMC1
20 11.36 ITGA6 ITGB4 LAMC1
21 11.24 COL17A1 ITGA6 ITGB4
22 11.14 ITGB4 LAMA3
23 11.12 LAMC1 LAMC2
25
Show member pathways
10.93 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2

GO Terms for Junctional Epidermolysis Bullosa

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

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.55 COL17A1 LAMA3 LAMB3 LAMC1 LAMC2
2 cell leading edge GO:0031252 9.4 DST ITGB4
3 basal plasma membrane GO:0009925 9.37 DST ITGA6
4 integrin complex GO:0008305 9.32 ITGA6 ITGB4
5 laminin-5 complex GO:0005610 9.26 LAMA3 LAMB3
6 hemidesmosome GO:0030056 9.26 COL17A1 DST ITGA6 ITGB4
7 basement membrane GO:0005604 9.17 COL17A1 DST ITGA6 LAMA3 LAMB3 LAMC1

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.7 DST ITGA6 ITGB4 LAMA3 LAMB3 LAMC1
2 cell-matrix adhesion GO:0007160 9.65 COL17A1 ITGA6 ITGB4
3 integrin-mediated signaling pathway GO:0007229 9.63 DST ITGA6 ITGB4
4 epidermis development GO:0008544 9.62 COL17A1 LAMA3 LAMB3 LAMC2
5 response to wounding GO:0009611 9.58 DST ITGB4
6 skin development GO:0043588 9.57 ITGA6 ITGB4
7 digestive tract development GO:0048565 9.56 ITGA6 ITGB4
8 extracellular matrix disassembly GO:0022617 9.56 LAMA3 LAMB3 LAMC1 LAMC2
9 brown fat cell differentiation GO:0050873 9.55 ITGA6 LAMB3
10 endodermal cell differentiation GO:0035987 9.54 LAMA3 LAMB3
11 cell motility GO:0048870 9.52 DST ITGB4
12 renal system development GO:0072001 9.51 ITGA6 ITGB4
13 amelogenesis GO:0097186 9.49 ITGA6 ITGB4
14 nail development GO:0035878 9.43 ITGA6 ITGB4
15 extracellular matrix organization GO:0030198 9.43 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2
16 basement membrane assembly GO:0070831 9.4 LAMC1 LAMC2
17 system development GO:0048731 9.37 LAMC1 LAMC2
18 hemidesmosome assembly GO:0031581 9.17 COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1

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

id Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor I binding GO:0031994 8.96 ITGA6 ITGB4
2 neuregulin binding GO:0038132 8.62 ITGA6 ITGB4

Sources for Junctional Epidermolysis Bullosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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