EBJ
MCID: JNC001
MIFTS: 58

Junctional Epidermolysis Bullosa (EBJ) malady

Skin diseases, Fetal diseases categories

Summaries for Junctional Epidermolysis Bullosa

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21Genetics Home Reference, 42NIH Rare Diseases, 19GeneReviews, 32MalaCards
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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: Junctional Epidermolysis Bullosa, also known as epidermolysis bullosa, junctional, is related to epidermolysis bullosa and epidermolysis bullosa with pyloric atresia, and has symptoms including bladder and ureter anomalies, respiratory distress/dyspnea/respiratory failure/lung volume reduction and larynx/laryngeal/epiglottic/subglottic cysts. An important gene associated with Junctional Epidermolysis Bullosa is LAMC2 (laminin, gamma 2), and among its related pathways are Anchoring fibril formation and Axon guidance. The compounds calcipotriol and yigsr have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and testes, and related mouse phenotypes are respiratory system and other.

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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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
junctional epidermolysis bullosa:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Before age 5


Aliases & Descriptions:

junctional epidermolysis bullosa 8 19 42 21 10 48 60
epidermolysis bullosa, junctional 42 20 21
jeb 42 21 48
epidermolysis bullosa atrophicans 42 48
congenital junctional epidermolysis bullosa 8
epidermolysis bullosa junctional 44
ebj 48


External Ids:

Disease Ontology8 DOID:3209
MeSH34 D016109
MESH via Orphanet35 D016109
SNOMED-CT via Orphanet57 399971009
UMLS via Orphanet61 C0079301

Related Diseases for Junctional Epidermolysis Bullosa

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17GeneCards, 18GeneDecks
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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 57)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa32.1ITGB4, LAMA3, KRT14, DST, ITGA6, COL17A1
2epidermolysis bullosa with pyloric atresia31.4ITGA6, ITGB4
3junctional epidermolysis bullosa, non-herlitz type31.0ITGB4, COL17A1, LAMB3
4junctional epidermolysis bullosa, herlitz type30.9LAMB3, LAMA3, LAMC2
5squamous cell carcinoma30.7DST, ITGB4, ITGA6, KRT14, LAMC2, COL17A1
6bullous pemphigoid30.7LAMA3, LAD1, DST, KRT14, ITGA6, LAMC2
7epidermolysis bullosa simplex30.3ITGB4, COL17A1, DST, KRT14
8epidermolysis bullosa acquisita30.3COL17A1, LAMC2, LAD1, DST, LAMA3, ITGB4
9late-onset localized junctional epidermolysis bullosa - intellectual deficit10.5
10urethritis10.4
11pyloric stenosis10.4
12junctional epidermolysis bullosa inversa10.4
13lamb3-related junctional epidermolysis bullosa10.4
14col17a1-related junctional epidermolysis bullosa10.4
15lamc2-related junctional epidermolysis bullosa10.4
16lama3-related junctional epidermolysis bullosa10.4
17epidermolysis bullosa, junctional, with pyloric stenosis10.4
18late-onset junctional epidermolysis bullosa10.4
19amelogenesis imperfecta10.2
20protein-losing enteropathy10.2
21polycystic kidney disease10.2
22duodenitis10.2
23acute laryngitis10.2
24autosomal dominant disease10.2
25autosomal recessive disease10.2
26congenital muscular dystrophy10.2
27keratoacanthoma10.2
28kidney disease10.2
29laryngitis10.2
30muscular dystrophy10.2
31nephrotic syndrome10.2
32urethral stricture10.2
33polycystic kidney disease, autosomal dominant10.2
34polycystic kidney disease, autosomal recessive10.2
35epidermolysis bullosa dystrophica, ad10.2
36cicatricial pemphigoid10.0COL17A1
37pemphigus10.0DST
38pemphigus vulgaris10.0DST
39cervical intraepithelial neoplasia10.0ITGB4
40ocular cicatricial pemphigoid10.0ITGA6, ITGB4
41epidermolysis bullosa simplex with pyloric atresia10.0ITGB4, ITGA6
42aplasia cutis congenita10.0ACHE
43bullous skin disease10.0COL17A1, DST
44herpes gestationis10.0COL17A1, DST
45lichen planus10.0LAMC2, DST, COL17A1
46skin disease10.0KRT14, COL17A1
47colon adenocarcinoma10.0ITGA6, ITGB4
48prostate cancer10.0LAMC2, ITGA6, ITGB4
49basal cell carcinoma10.0DST, COL17A1, ITGB4, LAMC2
50neurilemmoma10.0ITGB4, ACHE, ITGA6

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



Diseases related to junctional epidermolysis bullosa

Clinical Features for Junctional Epidermolysis Bullosa

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48Orphanet
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Symptoms:

48 (show all 34)
  • bladder and ureter anomalies
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • larynx/laryngeal/epiglottic/subglottic cysts
  • larynx/laryngeal stenosis/atresia
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • renal failure
  • recurrent urinary infections
  • restricted joint mobility/joint stiffness/ankylosis
  • anaemia
  • early death/lethality
  • dehydration/hydroelectrolytic loss
  • sepsis severe/septicemia
  • polyhydramnios
  • onycholysis
  • alopecia
  • irregular/in bands/reticular skin hyperpigmentation
  • enamel anomaly
  • skin hypoplasia/aplasia/atrophy
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • autosomal recessive inheritance
  • pruritus/itching
  • stomach/gastric anomaly
  • duodenal atresia/stenosis/megaduodenum
  • mucosal/cutaneous hemorrhage
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • corneal ulceration/perforation
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • syndactyly of fingers/interdigital palm
  • syndactyly of toes
  • chronic skin infection/ulcerations/ulcers/cancrum
  • follicular/erythematous/edematous papules/milium
  • anomalies of teeth and dentition

Drugs & Therapeutics for Junctional Epidermolysis Bullosa

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Junctional Epidermolysis Bullosa

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20GeneTests
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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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32MalaCards
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MalaCards organs/tissues related to Junctional Epidermolysis Bullosa:

32
Skin, Lung, Testes, Kidney, Eye

Animal Models for Junctional Epidermolysis Bullosa or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Junctional Epidermolysis Bullosa:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.4ITGB4, ITGA6, KRT14, LAMC2
2MP:00053959.0ITGA6, DST, LAMC1, LAMC2
3MP:00107718.8COL17A1, ITGB4, ITGA6, DST, KRT14, LAMB3
4MP:00053828.7ITGB4, ITGA6, ACHE, LAMA3, LAMB3, LAMC2
5MP:00053918.5LAMC1, ACHE, KRT14, DST, ITGA6, ITGB4
6MP:00053818.5ITGB4, ITGA6, DST, KRT14, LAMA3, LAMB3
7MP:00107686.7LAMC2, COL17A1, ITGB4, ITGA6, DST, EIF6

Publications for Junctional Epidermolysis Bullosa

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50PubMed
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Articles related to Junctional Epidermolysis Bullosa:

(show top 50)    (show all 276)
idTitleAuthorsYear
1
Somatic correction of junctional epidermolysis bullosa by a highly recombinogenic AAV variant. (24390279)
2014
2
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
3
Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. (22931927)
2013
4
Inherited junctional epidermolysis bullosa (Herlitz type) in German black-headed mutton sheep. (22000950)
2012
5
Squamous cell carcinoma and junctional epidermolysis bullosa. (22507578)
2012
6
Dermatopathology diagnosis: junctional epidermolysis bullosa. (22988647)
2012
7
Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations. (22318390)
2012
8
Upper airway complications of junctional epidermolysis bullosa. (22050875)
2012
9
Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands. (21801158)
2011
10
A Japanese-specific recurrent mutation and a novel splice site mutation in the LAMC2 gene identified in two Japanese families with Herlitz junctional epidermolysis bullosa. (21198797)
2011
11
A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing. (20955205)
2011
12
Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. (20163412)
2010
13
Junctional epidermolysis bullosa in a female Nigerian child: a case report. (20539337)
2010
14
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. (20596088)
2010
15
Secondary modifiers and the phenotypic variability of junctional epidermolysis bullosa. (18837160)
2008
16
Focal acantholysis in junctional epidermolysis bullosa. (19049949)
2008
17
ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia. (17512702)
2007
18
Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. (15663509)
2005
19
Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa. (15692495)
2005
20
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel 594insC/Q425P mutations in integrin beta4 gene (ITGB4). (15009117)
2004
21
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. (14705814)
2003
22
Treatment of two patients with Herlitz junctional epidermolysis bullosa with artificial skin bioequivalents. (12378197)
2002
23
Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: a case report and review of the literature. (12447669)
2002
24
Junctional epidermolysis bullosa with pyloric stenosis. (11841649)
2001
25
Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. (10949552)
2000
26
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk. (10701857)
2000
27
Generalised non lethal junctional epidermolysis bullosa. (20877112)
2000
28
Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. (10951251)
2000
29
Junctional epidermolysis bullosa in the neonate: a case report. (10442731)
1999
30
Outcome after surgical repair of junctional epidermolysis bullosa-pyloric atresia syndrome: a report of 3 cases and review of the literature. (10522673)
1999
31
Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa. (9759651)
1998
32
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. (9326326)
1997
33
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. (9185503)
1997
34
Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. (7774918)
1995
35
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. (7545057)
1995
36
Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis. (8606881)
1995
37
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. (7633458)
1995
38
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. (8012393)
1994
39
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). (8012394)
1994
40
Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. (7963683)
1994
41
Pathological case of the month. Junctional epidermolysis bullosa. (8427249)
1993
42
The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature. (1497363)
1992
43
Late-onset localized junctional epidermolysis bullosa and mental retardation: a distinct autosomal recessive syndrome. (1642260)
1992
44
Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. (1990210)
1991
45
Congenital pyloric atresia and junctional epidermolysis bullosa: a report of long-term survival and a review of the literature. (1812271)
1991
46
19-DEJ-1, a monoclonal antibody to the hemidesmosome-anchoring filament complex, is the only reliable immunohistochemical probe for all major forms of junctional epidermolysis bullosa. (2396835)
1990
47
Prenatal diagnosis of junctional epidermolysis bullosa Herlitz type. (2572757)
1989
48
Non-lethal junctional epidermolysis bullosa in two adult sisters. (4093948)
1985
49
Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa. (3913455)
1985
50
Junctional epidermolysis bullosa and pyloric atresia in two siblings. (4037846)
1985

Genetic Variations for Junctional Epidermolysis Bullosa

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Expression for genes affiliated with Junctional Epidermolysis Bullosa

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Junctional Epidermolysis Bullosa

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

Pathways for genes affiliated with Junctional Epidermolysis Bullosa

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53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 51QIAGEN
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Pathways related to Junctional Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8LAMA3, LAMB3, LAMC2
2
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9.7LAMC1, LAMB1
39.7ITGA6, ITGB4, COL17A1
49.5LAMB1, LAMC1, LAMC2
5
Hide members
9.2LAMB3, LAMC1, LAMB1, ITGA6
6
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
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9.2ITGB4, ITGA6, LAMB1, LAMC1
79.0LAMC2, LAMB3, LAMA3, LAMC1, LAMB1
8
Cell adhesion ECM remodeling
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9.0LAMB1, LAMC1, LAMA3, LAMB3, LAMC2
98.7ITGA6, LAMB1, LAMC1, LAMA3, LAMB3, LAMC2
108.7ITGA6, LAMB1, LAMC1, LAMA3, LAMB3, LAMC2
11
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8.5ITGB4, ITGA6, LAMB1, LAMC1, LAMA3, LAMB3
128.5ITGB4, ITGA6, LAMB1, LAMC1, LAMA3, LAMB3
13
Hide members
8.5ITGB4, ITGA6, LAMB1, LAMC1, LAMA3, LAMB3
14
Hide members
8.5ITGB4, ITGA6, LAMB1, LAMC1, LAMA3, LAMB3
15
Hide members
8.5ITGB4, ITGA6, LAMB1, LAMC1, LAMA3, LAMB3
16
Hide members
8.3COL17A1, ITGB4, ITGA6, DST, KRT14, LAMA3
178.3COL17A1, ITGB4, ITGA6, DST, KRT14, LAMA3
18
Hide members
8.2COL17A1, ITGB4, ITGA6, LAMB1, LAMC1, LAMA3
19
Hide members
8.2COL17A1, ITGB4, ITGA6, LAMB1, LAMC1, LAMA3
20
Hide members
8.2COL17A1, ITGB4, ITGA6, LAMB1, LAMC1, LAMA3
21
Hide members
7.9COL17A1, ITGB4, ITGA6, DST, LAMB1, LAMC1
227.4LAMC2, COL17A1, ITGB4, LAMB3, LAMA3, LAMC1

Compounds for genes affiliated with Junctional Epidermolysis Bullosa

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank
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Compounds related to Junctional Epidermolysis Bullosa according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcipotriol44 59 28 1112.8KRT14, ITGB4
2yigsr449.7ITGA6, LAMB1
3hpvs449.7KRT14, ITGA6
4gold449.4LAMC2, DST, COL17A1
5kalinin448.6LAMC2, LAMB3, LAMA3, LAMC1, DST, ITGA6

GO Terms for genes affiliated with Junctional Epidermolysis Bullosa

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16Gene Ontology
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Cellular components related to Junctional Epidermolysis Bullosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integrin complexGO:0083059.9ITGA6, ITGB4
2laminin-5 complexGO:0056109.9LAMB3, LAMC2, LAMA3
3laminin-10 complexGO:0432599.7LAMC1, LAMB1
4basal plasma membraneGO:0099259.6ITGA6, ITGB4, DST
5laminin-1 complexGO:0056069.6LAMC1, LAMA3, LAMB1
6cell leading edgeGO:0312529.6DST, ITGB4
7hemidesmosomeGO:0300569.5DST, ITGA6, ITGB4, COL17A1
8extracellular regionGO:0055768.3LAMC2, LAMB3, LAMA3, LAMC1, LAMB1, ACHE
9basement membraneGO:0056048.2DST, COL17A1, ITGB4, ITGA6, LAD1, LAMB1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1brown fat cell differentiationGO:0508739.9LAMB3, ITGA6
2cell motilityGO:0488709.9DST, ITGB4
3filopodium assemblyGO:0468479.8ITGB4, ITGA6
4cell-matrix adhesionGO:0071609.8ITGA6, ITGB4, COL17A1
5integrin-mediated signaling pathwayGO:0072299.7ITGB4, ITGA6, DST
6response to woundingGO:0096119.6ACHE, DST, ITGB4
7substrate adhesion-dependent cell spreadingGO:0344469.4LAMC1, LAMB1
8epidermis developmentGO:0085449.3COL17A1, KRT14, LAMA3, LAMB3, LAMC2
9cell junction assemblyGO:0343298.8COL17A1, ITGB4, ITGA6, KRT14, LAMA3, LAMB3
10hemidesmosome assemblyGO:0315818.2LAMC2, COL17A1, ITGB4, ITGA6, DST, KRT14
11cell adhesionGO:0071558.2ITGB4, DST, ACHE, LAMB1, LAMC1, LAMA3
12extracellular matrix organizationGO:0301988.1COL17A1, ITGB4, ITGA6, DST, LAMB1, LAMC1

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

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid bindingGO:0432089.4LAMC1, LAMB1
2integrin bindingGO:0051789.4LAMB1, DST, ITGA6
3structural molecule activityGO:0051989.1LAMB3, LAMA3, LAMB1, LAD1

Products for genes affiliated with Junctional Epidermolysis Bullosa

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Sources for Junctional Epidermolysis Bullosa

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet