EBJ
MCID: JNC001
MIFTS: 52

Junctional Epidermolysis Bullosa (EBJ) malady

Skin, Fetal categories

Summaries for Junctional Epidermolysis Bullosa

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 junctional epidermolysis bullosa, herlitz type and junctional epidermolysis bullosa, non-herlitz type, and has symptoms including syndactyly of fingers/interdigital palm, autosomal recessive inheritance and nausea/vomiting/regurgitation/merycism/hyperemesis. 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 and kidney, 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

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 49Orphanet, 61UMLS, 20GeneTests, 45Novoseek, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 21 10 49 61
epidermolysis bullosa, junctional 43 20 21
jeb 43 21 49
epidermolysis bullosa atrophicans 43 49
congenital junctional epidermolysis bullosa 8
epidermolysis bullosa junctional 45
ebj 49


External Ids:

Disease Ontology8 DOID:3209
MeSH35 D016109
MESH via Orphanet36 D016109
SNOMED-CT via Orphanet58 399971009
UMLS via Orphanet62 C0079301

Related Diseases for Junctional Epidermolysis Bullosa

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Junctional Epidermolysis Bullosa family:

epidermolysis bullosa, late-onset localized junctional, with mental retardation epidermolysis bullosa, junctional, with pyloric stenosis
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 54)
idRelated DiseaseScoreTop Affiliating Genes
1junctional epidermolysis bullosa, herlitz type31.2LAMA3, LAMB3, LAMC2
2junctional epidermolysis bullosa, non-herlitz type31.1COL17A1, ITGB4, LAMB3
3bullous pemphigoid30.8COL17A1, ITGA6, DST
4squamous cell carcinoma30.8COL17A1, ITGB4, ITGA6, DST, KRT14, LAMA3
5epidermolysis bullosa with pyloric atresia30.7ITGA6, ITGB4
6epidermolysis bullosa simplex30.3KRT14, DST, ITGB4, COL17A1
7epidermolysis bullosa acquisita30.3COL17A1, ITGB4, DST, LAD1, LAMA3, LAMC2
8late-onset junctional epidermolysis bullosa10.6
9junctional epidermolysis bullosa inversa10.5
10late-onset localized junctional epidermolysis bullosa - intellectual deficit10.5
11lamb3-related junctional epidermolysis bullosa10.4
12col17a1-related junctional epidermolysis bullosa10.4
13lamc2-related junctional epidermolysis bullosa10.4
14lama3-related junctional epidermolysis bullosa10.4
15epidermolysis bullosa, junctional, with pyloric stenosis10.4
16amelogenesis imperfecta10.2
17protein-losing enteropathy10.2
18polycystic kidney disease10.2
19n syndrome10.2
20autosomal dominant disease10.2
21autosomal recessive disease10.2
22urethral stricture10.2
23polycystic kidney disease, autosomal dominant10.2
24polycystic kidney disease, autosomal recessive10.2
25kindler syndrome10.2
26duodenal atresia10.2
27epidermolysis bullosa, pretibial10.2
28rhabdoid tumor10.2
29mental retardation10.2
30epidermolysis bullosa dystrophica, ad10.2
31gastric outlet obstruction10.2
32cicatricial pemphigoid10.0COL17A1
33pemphigus10.0DST
34pemphigus vulgaris10.0DST
35cervical intraepithelial neoplasia10.0ITGB4
36ocular cicatricial pemphigoid10.0ITGA6, ITGB4
37epidermolysis bullosa simplex with pyloric atresia10.0ITGB4, ITGA6
38aplasia cutis congenita10.0ACHE
39bullous skin disease10.0DST, COL17A1
40herpes gestationis10.0DST, COL17A1
41lichen planus10.0LAMC2, DST, COL17A1
42skin disease10.0COL17A1, KRT14
43colon adenocarcinoma10.0ITGB4, ITGA6
44prostate cancer10.0ITGB4, ITGA6, LAMC2
45basal cell carcinoma10.0COL17A1, ITGB4, DST, LAMC2
46neurilemmoma10.0ACHE, ITGA6, ITGB4
47hepatocellular carcinoma10.0ITGA6, EIF6, KRT14
48squamous cell carcinoma of the head and neck10.0KRT14, ITGA6, ITGB4
49ovarian cancer10.0COL17A1, ITGB4, ITGA6, ACHE
50colon cancer10.0ITGB4, ITGA6, ACHE, LAMC2

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



Diseases related to junctional epidermolysis bullosa

Clinical Features for Junctional Epidermolysis Bullosa

Sources:
49Orphanet
See all sources


Symptoms:

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

Drugs & Therapeutics for Junctional Epidermolysis Bullosa

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Junctional Epidermolysis Bullosa

Search CenterWatch for Junctional Epidermolysis Bullosa

Genetic Tests for Junctional Epidermolysis Bullosa

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Junctional Epidermolysis Bullosa:

33
Skin, Kidney

Animal Models for Junctional Epidermolysis Bullosa or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Junctional Epidermolysis Bullosa:

37
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

Sources:
51PubMed
See all sources

Articles related to Junctional Epidermolysis Bullosa:

(show top 50)    (show all 274)
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
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 founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing. (20955205)
2011
11
Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. (20163412)
2010
12
Epidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa. (20566927)
2010
13
Prevalence of inherited junctional epidermolysis bullosa in German shorthaired pointers bred in Italy. (21257512)
2010
14
Secondary modifiers and the phenotypic variability of junctional epidermolysis bullosa. (18837160)
2008
15
Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro. (18079746)
2008
16
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
17
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
18
Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands. (17263807)
2007
19
Junctional epidermolysis bullosa. Identification of a new mutation in two Lebanese families]. (16142104)
2005
20
Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa. (15692495)
2005
21
Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer. (12808440)
2003
22
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. (14705814)
2003
23
Junctional epidermolysis bullosa lethalis with pyloric and anorectal obstruction. (11527195)
2001
24
Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. (10951251)
2000
25
Toward epidermal stem cell-mediated ex vivo gene therapy of junctional epidermolysis bullosa. (11084687)
2000
26
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. (9501007)
1998
27
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
28
Junctional epidermolysis bullosa: diagnosis and management of a patient with the Herlitz variant. (9607491)
1998
29
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
30
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. (9185503)
1997
31
The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa. (9049810)
1997
32
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
33
Cloning of the beta 3 chain gene (LAMB3) of human laminin 5, a candidate gene in junctional epidermolysis bullosa. (7774918)
1995
34
Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis. (8606881)
1995
35
Junctional epidermolysis bullosa and pyloric atresia: a distinct entity. Clinical and pathological studies in five patients. (8555025)
1995
36
Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. (8063286)
1994
37
A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. (7849725)
1994
38
Junctional Epidermolysis Bullosa (20301304)
1993
39
Treatment of chronic erosions of junctional epidermolysis bullosa with human epidermal allografts. (1607462)
1992
40
Late-onset localized junctional epidermolysis bullosa and mental retardation: a distinct autosomal recessive syndrome. (1642260)
1992
41
Junctional epidermolysis bullosa keratinocytes in culture display adhesive, structural, and functional abnormalities. (1717612)
1991
42
Monoclonal antibody GB3 defines a widespread defect of several basement membranes and a keratinocyte dysfunction in patients with lethal junctional epidermolysis bullosa. (1990210)
1991
43
Congenital pyloric atresia and junctional epidermolysis bullosa: a report of long-term survival and a review of the literature. (1812271)
1991
44
Efficacy of systemic phenytoin in the treatment of junctional epidermolysis bullosa. (3415285)
1988
45
Anaesthesia for children with junctional epidermolysis bullosa (letalis). (3608059)
1987
46
Acute laryngeal obstruction in junctional epidermolysis bullosa. (3658840)
1987
47
Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease. (3952029)
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
Junctional epidermolysis bullosa and pyloric atresia in two siblings. (4037846)
1985
50
Two cases of junctional epidermolysis bullosa (Herlitz-Pearson). (7378286)
1980

Genetic Variations for Junctional Epidermolysis Bullosa

Expression for genes affiliated with Junctional Epidermolysis Bullosa

Sources:
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 52QIAGEN
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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
Hide members
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
Hide members
9.0LAMB1, LAMC1, LAMA3, LAMB3, LAMC2
98.7ITGA6, LAMB1, LAMC1, LAMA3, LAMB3, LAMC2
108.7ITGA6, LAMB1, LAMC1, LAMA3, LAMB3, LAMC2
11
Hide members
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

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank
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Compounds related to Junctional Epidermolysis Bullosa according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcipotriol45 60 29 1112.8KRT14, ITGB4
2yigsr459.7ITGA6, LAMB1
3hpvs459.7KRT14, ITGA6
4gold459.4LAMC2, DST, COL17A1
5kalinin458.6LAMC2, LAMB3, LAMA3, LAMC1, DST, ITGA6

GO Terms for genes affiliated with Junctional Epidermolysis Bullosa

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet