MCID: JNC001
MIFTS: 54

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 10 21 45 22 23 12 65
Epidermolysis Bullosa, Junctional 45 23 36
Jeb 45 22 23
 
Epidermolysis Bullosa Junctional 47 24
Congenital Junctional Epidermolysis Bullosa 10
Epidermolysis Bullosa Atrophicans 45

Classifications:



External Ids:

Disease Ontology10 DOID:3209
MeSH36 D016109
NCIt42 C90598
UMLS65 C0079301

Summaries for Junctional Epidermolysis Bullosa

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NIH Rare Diseases:45 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 Validated transcriptional targets of AP1 family members Fra1 and Fra2 and Amoebiasis. Affiliated tissues include skin, eye and breast, and related mouse phenotypes are respiratory system and integument.

Genetics Home Reference:23 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:

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 279)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa, junctional, herlitz type33.5LAMA3, LAMB3, LAMC2
2epidermolysis bullosa, junctional, with pyloric stenosis32.6ITGA6, ITGB4
3epidermolysis bullosa, junctional, non-herlitz type32.3COL17A1, ITGB4, LAMA3, LAMB3, LAMC2
4gastroparesis30.1COL17A1, DST
5generalized junctional epidermolysis bullosa, non-herlitz type12.8
6junctional epidermolysis bullosa inversa12.6
7late-onset junctional epidermolysis bullosa12.6
8localized junctional epidermolysis bullosa, non-herlitz type12.6
9col17a1-related junctional epidermolysis bullosa12.6
10lama3-related junctional epidermolysis bullosa12.6
11lamb3-related junctional epidermolysis bullosa12.6
12lamc2-related junctional epidermolysis bullosa12.6
13late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome12.6
14epidermolysis bullosa with pyloric atresia12.0
15epidermolysis bullosa10.6
16epidermolysis bullosa acquisita10.6
17breast cancer10.6
18leukemia10.5
19cervicitis10.4
20obesity10.4
21arthritis10.4
22gastric cancer10.4
23hepatitis10.4
24rickets10.4
25hairy cell leukemia10.4
26neuronitis10.4
27aneurysm10.4
28endotheliitis10.4
29rheumatoid arthritis10.3
30colorectal cancer10.3
31myocardial infarction10.3
32osteoporosis10.3
33acute myocardial infarction10.3
34atherosclerosis10.3
35fecal incontinence10.3
36colitis10.3
37esophagitis10.3
38hepatitis c10.3
39cerebritis10.3
40tuberculosis10.3
41multidrug-resistant tuberculosis10.3
42adenoma10.3
43juvenile rheumatoid arthritis10.3
44amyloidosis10.3
45encephalopathy10.3
46superficial epidermolytic ichthyosis10.2LAMA3, LAMB3
47schizophrenia10.1
48neuroblastoma10.1
49malaria10.1
50lung cancer10.1

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 1, Phase 21386
2Gentamicins123
3Anti-Infective Agents17220
4Antibiotics, Antitubercular5971
5Anti-Bacterial Agents9140

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of 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 Junctional Epidermolysis Bullosa22 LAMC2

Anatomical Context for Junctional Epidermolysis Bullosa

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MalaCards organs/tissues related to Junctional Epidermolysis Bullosa:

33
Skin, Eye, Breast, Lung, Endothelial, Bone, Brain

Animal Models for Junctional Epidermolysis Bullosa or affiliated genes

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MGI Mouse Phenotypes related to Junctional Epidermolysis Bullosa:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.1ITGA6, ITGB4, LAMB3, LAMC2
2MP:00107717.8ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
3MP:00053827.7ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
4MP:00053817.4ITGA6, ITGB4, LAMA3, LAMB3, LAMC2

Publications for Junctional Epidermolysis Bullosa

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Articles related to Junctional Epidermolysis Bullosa:

(show top 50)    (show all 288)
idTitleAuthorsYear
1
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. (25683120)
2015
2
Association of P2RY12 polymorphisms with eosinophil and platelet activation in patients with aspirin-exacerbated respiratory disease. (25778862)
2015
3
Resistance of Hepatitis C Virus to Inhibitors: Complexity and Clinical Implications. (26561827)
2015
4
Phenotype-genotype correlations in hemophiliaA A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation. (25611311)
2015
5
Evaluation of PCR electrospray-ionization mass spectrometry for rapid molecular diagnosis of bovine mastitis. (23587378)
2013
6
Clinical review: Association between metabolic syndrome and periodontitis: a systematic review and meta-analysis. (23386648)
2013
7
Idiopathic hypertrophic pachymeningitis mimicking neurosarcoidosis. (22071202)
2012
8
Transjugular intrahepatic porto-systemic stent-shunt for therapy of bleeding esophageal varices due to extramedullary hematopoiesis in primary myelofibrosis: a case report. (22722458)
2012
9
Are there meaningful differences between major depressive disorder, dysthymic disorder, and their subthreshold variants? (22922240)
2012
10
Regulation of CD1, Ki-67, PCNA mRNA expression, and Akt activation in estrogen-responsive human breast adenocarcinoma cell line, MCF-7 cells, by griffonianone C, an isoflavone derived from Millettia griffoniana. (21284537)
2011
11
MiR-29a inhibits cell proliferation and induces cell cycle arrest through the downregulation of p42.3 in human gastric cancer. (21998710)
2011
12
Increased levels of calprotectin in obesity are related to macrophage content: impact on inflammation and effect of weight loss. (21738950)
2011
13
A conserved tetraspanin subfamily promotes Notch signaling in Caenorhabditis elegans and in human cells. (20220101)
2010
14
Conservative treatment of a rare case of multifocal adenoid cystic carcinoma of the breast: case report and literature review. (20190690)
2010
15
Adeno-associated virus harboring fusion gene NT4-ant-shepherdin induce cell death in human lung cancer cells. (19968500)
2010
16
Molecular cloning and analysis of SSc5D, a new member of the scavenger receptor cysteine-rich superfamily. (19535143)
2009
17
E7 oncoprotein of novel human papillomavirus type 108 lacking the E6 gene induces dysplasia in organotypic keratinocyte cultures. (19153227)
2009
18
Rapid identification of paragonimiasis foci by lay informants in Lao People's Democratic Republic. (19771150)
2009
19
NMR studies on binding sites and aggregation-disassociation of fluorinated surfactant sodium perfluorooctanoate on protein ubiquitin. (19027051)
2009
20
Molecular basis for E-cadherin recognition by killer cell lectin-like receptor G1 (KLRG1). (19654330)
2009
21
Genetic variation in the inhibin pathway and risk of testicular germ cell tumors. (18413775)
2008
22
Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis. (18729067)
2008
23
Thiazolidinediones and the risk of lung, prostate, and colon cancer in patients with diabetes. (17442990)
2007
24
Changes in plasma vascular endothelial growth factor, angiopoietins, and their receptors following surgery for breast cancer. (16891056)
2007
25
Eosinophilic ascites as the first sign of idiopathic hypereosinophilic syndrome in childhood. (17881935)
2007
26
PKA-induced resistance to tamoxifen is associated with an altered orientation of ERalpha towards co-activator SRC-1. (17627277)
2007
27
Mannan-binding lectin may facilitate the clearance of circulating immune complexes--implications from a study on C2-deficient individuals. (17335556)
2007
28
Metastatic hemangiopericytoma of the skin treated with wide local excision and MGN-3. (16393616)
2006
29
Assessment of calcium-binding proteins (Parvalbumin and Calbindin D-28K) and perineuronal nets in normal and scrapie-affected adult sheep brains. (16828173)
2006
30
Correction of involutional lower eyelid medial ectropion with transconjunctival approach retractor plication and lateral tarsal strip. (16637845)
2006
31
Heart rate variability and autonomic dysfunction in SSPE. (15730899)
2005
32
Long-term clinical outcomes following treatment of actinic keratosis with imiquimod 5% cream. (15996416)
2005
33
Neutrophil apoptosis, proinflammatory mediators and cell counts in bronchiectasis. (14985560)
2004
34
Inhibition of P-glycoprotein activity and reversal of cancer multidrug resistance by Momordica charantia extract. (15248030)
2004
35
Phospholipid vesicle fusion induced by saposin C. (12801511)
2003
36
Inflammation and atherosclerosis in end-stage renal disease. (12566658)
2003
37
Expression of cAMP response element-binding protein and sodium iodide symporter in benign non-functioning and malignant thyroid tumours. (12720543)
2003
38
The human chordin gene encodes several differentially expressed spliced variants with distinct BMP opposing activities. (11472837)
2001
39
Pilomatrixoma of the head and neck in children. (11700451)
2001
40
Dual mechanism of vascular endothelial growth factor upregulation by hypoxia in human hepatocellular carcinoma. (11115828)
2001
41
Prevalence of a positive family history of type 2 diabetes in women with polycystic ovarian disease. (10685332)
1999
42
Hyperbaric oxygen: a novel modality to ameliorate experimental colitis. (9824579)
1998
43
Synthesis and biological activity of 3-substituted 3-desoxynaltrindole derivatives. (9871544)
1998
44
Increased expression of the P27KIP1 protein in human esophageal cancer cell lines that over-express cyclin D1. (9214595)
1997
45
The major form of the murine asialoglycoprotein receptor: cDNA sequence and expression in liver, testis and epididymis. (7958950)
1994
46
The masking effect of sialic acid on Con A, PNA and SBA ectoderm binding sites during neurulation in the bantam chick embryo. (1609965)
1992
47
Hormonal studies and physical maturation in adolescent gynecomastia. (2137877)
1990
48
Clinical phobias and avoidant personality disorder among alcoholics admitted to an alcoholism rehabilitation setting. (3791123)
1986
49
Acute closed-angle glaucoma: an investigation into the effect of delay in treatment. (526462)
1979
50

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 23)
idSuper pathwaysScoreTop Affiliating Genes
19.4ITGB4, LAMA3
29.2LAMA3, LAMB3, LAMC2
39.2LAMA3, LAMB3, LAMC2
49.0ITGA6, ITGB4
59.0ITGA6, ITGB4
69.0ITGA6, ITGB4
7
Show member pathways
8.6ITGA6, ITGB4, LAMA3
88.6COL17A1, ITGA6, ITGB4
98.3ITGA6, LAMA3, LAMB3, LAMC2
10
Show member pathways
8.3ITGA6, LAMA3, LAMB3, LAMC2
118.3ITGA6, LAMA3, LAMB3, LAMC2
12
Show member pathways
7.7ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
13
Show member pathways
7.7ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
147.7ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
15
Show member pathways
7.7ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
16
Show member pathways
7.7ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
17
Show member pathways
7.3COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
18
Show member pathways
7.3COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
19
Show member pathways
7.3COL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC2
20
Show member pathways
6.7COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
21
Show member pathways
6.7COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
22
Show member pathways
6.7COL17A1, DST, ITGA6, ITGB4, LAMA3, LAMB3
23
Show member pathways
6.7COL17A1, 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
1basement membraneGO:00056049.5DST, LAMA3
2hemidesmosomeGO:00300569.3COL17A1, ITGB4

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1response to woundingGO:00096119.6DST, ITGB4
2hemidesmosome assemblyGO:00315819.5COL17A1, ITGB4, LAMC2
3renal system developmentGO:00720019.4ITGA6, ITGB4
4digestive tract developmentGO:00485659.3ITGA6, ITGB4
5integrin-mediated signaling pathwayGO:00072299.3ITGA6, ITGB4
6cell junction assemblyGO:00343298.9ITGA6, ITGB4
7cell-matrix adhesionGO:00071608.9COL17A1, ITGA6, ITGB4
8extracellular matrix disassemblyGO:00226178.7COL17A1, LAMA3, LAMB3, LAMC2
9epidermis developmentGO:00085448.4COL17A1, LAMA3, LAMB3, LAMC2

Sources for Junctional Epidermolysis Bullosa

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet