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, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 60UMLS, 20GeneTests, 44Novoseek, 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
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
2
The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome. (24005051)
2013
3
Early intra-amniotic gene transfer using lentiviral vector improves skin blistering phenotype in a murine model of Herlitz junctional epidermolysis bullosa. (21938019)
2012
4
Junctional epidermolysis bullosa in a calf. (22362960)
2012
5
Squamous cell carcinoma and junctional epidermolysis bullosa. (22507578)
2012
6
Dermatopathology diagnosis: junctional epidermolysis bullosa. (22988647)
2012
7
Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands. (21801158)
2011
8
Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. (20163412)
2010
9
Epidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa. (20566927)
2010
10
Prevalence of inherited junctional epidermolysis bullosa in German shorthaired pointers bred in Italy. (21257512)
2010
11
Herlitz junctional epidermolysis bullosa. (19945616)
2010
12
Secondary modifiers and the phenotypic variability of junctional epidermolysis bullosa. (18837160)
2008
13
Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro. (18079746)
2008
14
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. (18779879)
2008
15
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
16
Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands. (17263807)
2007
17
Junctional epidermolysis bullosa. Identification of a new mutation in two Lebanese families]. (16142104)
2005
18
Analysis of the LAMB3 gene in a junctional epidermolysis bullosa patient reveals exonic splicing and allele-specific nonsense-mediated mRNA decay. (15311214)
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
Junctional epidermolysis bullosa with pyloric stenosis. (11841649)
2001
22
Junctional epidermolysis bullosa lethalis with pyloric and anorectal obstruction. (11527195)
2001
23
Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. (10951251)
2000
24
Toward epidermal stem cell-mediated ex vivo gene therapy of junctional epidermolysis bullosa. (11084687)
2000
25
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. (9501007)
1998
26
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
27
Junctional epidermolysis bullosa: diagnosis and management of a patient with the Herlitz variant. (9607491)
1998
28
Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. (9199555)
1997
29
The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa. (9049810)
1997
30
A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. (8618022)
1996
31
Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. (7774918)
1995
32
Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis. (8606881)
1995
33
Junctional epidermolysis bullosa and pyloric atresia: a distinct entity. Clinical and pathological studies in five patients. (8555025)
1995
34
A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. (7849725)
1994
35
Junctional Epidermolysis Bullosa (20301304)
1993
36
Alpha-fetoprotein and acetylcholinesterase are not predictors of fetal junctional epidermolysis bullosa, Herlitz variant. (7685091)
1993
37
Treatment of chronic erosions of junctional epidermolysis bullosa with human epidermal allografts. (1607462)
1992
38
Late-onset localized junctional epidermolysis bullosa and mental retardation: a distinct autosomal recessive syndrome. (1642260)
1992
39
Junctional epidermolysis bullosa keratinocytes in culture display adhesive, structural, and functional abnormalities. (1717612)
1991
40
Congenital pyloric atresia and junctional epidermolysis bullosa: a report of long-term survival and a review of the literature. (1812271)
1991
41
A case of pyloric atresia associated with junctional epidermolysis bullosa. (2311625)
1990
42
Efficacy of systemic phenytoin in the treatment of junctional epidermolysis bullosa. (3415285)
1988
43
Anaesthesia for children with junctional epidermolysis bullosa (letalis). (3608059)
1987
44
Acute laryngeal obstruction in junctional epidermolysis bullosa. (3658840)
1987
45
Elevated serum chymotrypsin levels in a patient with junctional epidermolysis bullosa. Normalization after UVB therapy with good clinical response. (3623797)
1987
46
Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease. (3952029)
1986
47
Junctional epidermolysis bullosa of the larynx. (3725490)
1986
48
Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa. (3913455)
1985
49
A fatal case of junctional epidermolysis bullosa (Herlitz-Pearson). (7037901)
1981
50
Two cases of junctional epidermolysis bullosa (Herlitz-Pearson). (7378286)
1980

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

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