JEB
MCID: JNC001
MIFTS: 53

Junctional Epidermolysis Bullosa (JEB)

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

Aliases & Classifications for Junctional Epidermolysis Bullosa

MalaCards integrated aliases for Junctional Epidermolysis Bullosa:

Name: Junctional Epidermolysis Bullosa 12 25 20 43 58 29 6 15 70
Epidermolysis Bullosa, Junctional 73 20 43 36 44
Jeb 20 43 58
Epidermolysis Bullosa Atrophicans 20 58
Congenital Junctional Epidermolysis Bullosa 12
Epidermolysis Bullosa Junctional 54

Characteristics:

Orphanet epidemiological data:

58
junctional epidermolysis bullosa
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Italy),<1/1000000 (Australia),1-9/1000000 (United States),<1/1000000 (United States); Age of onset: All ages; Age of death: early childhood;

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:3209
KEGG 36 H00586
MeSH 44 D016109
NCIt 50 C90598
SNOMED-CT 67 76905008
MESH via Orphanet 45 D016109
UMLS via Orphanet 71 C0079301
Orphanet 58 ORPHA305
UMLS 70 C0079301

Summaries for Junctional Epidermolysis Bullosa

MedlinePlus Genetics : 43 Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional epidermolysis bullosa into two main types: JEB generalized severe (formerly known as Herlitz JEB) and JEB generalized intermediate (formerly known as non-Herlitz JEB). Although the types differ in severity, their features overlap significantly, and they can be caused by mutations in the same genes.JEB generalized severe is the more serious form of the condition. From birth or early infancy, affected individuals have blistering over large regions of the body. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. As a result, many affected children are undernourished and grow slowly. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Granulation tissue bleeds easily and profusely, making affected infants susceptible to serious infections and loss of necessary proteins, minerals, and fluids. Additionally, a buildup of granulation tissue in the airway can lead to a weak, hoarse cry and difficulty breathing.Other complications of JEB generalized severe can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that limit movement, hair loss (alopecia), and thinning of the protective outer layer (enamel) of the teeth. Because the signs and symptoms of JEB generalized severe are so serious, infants with this condition usually do not survive beyond the first year of life.The milder form of junctional epidermolysis bullosa is called JEB generalized intermediate. The blistering associated with JEB generalized intermediate may be limited to the hands, feet, knees, and elbows, and it often improves after the newborn period. Other characteristic features of this form of the condition include hair loss, abnormal fingernails and toenails, and irregular tooth enamel. Most affected individuals do not have extensive scarring or granulation tissue formation, so breathing difficulties and other severe complications are rare. JEB generalized intermediate is typically associated with a normal lifespan.

MalaCards based summary : Junctional Epidermolysis Bullosa, also known as epidermolysis bullosa, junctional, is related to epidermolysis bullosa, junctional, herlitz type and epidermolysis bullosa with pyloric atresia. An important gene associated with Junctional Epidermolysis Bullosa is LAMC2 (Laminin Subunit Gamma 2), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Gentamicins and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are growth/size/body region and craniofacial

Disease Ontology : 12 An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has material basis in mutation in genes related to laminin 332, which strengthens the skin.

GARD : 20 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.

KEGG : 36 Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa are characterized by blister formation within the lamina lucida of the dermal-epidermal basement membrane. Herlitz subtype, the classic form of the disease, shows a severe phenotype that may lead to death during infancy or early childhood owing to infection.

Wikipedia : 73 Junctional epidermolysis bullosa is a skin condition characterized by blister formation within the... more...

GeneReviews: NBK1125

Related Diseases for Junctional Epidermolysis Bullosa

Diseases in the Junctional Epidermolysis Bullosa family:

Late-Onset Junctional Epidermolysis Bullosa

Diseases related to Junctional Epidermolysis Bullosa via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa, junctional, herlitz type 32.7 LAMC2 LAMB3 LAMA4 LAMA3 COL7A1 COL17A1
2 epidermolysis bullosa with pyloric atresia 32.6 PLEC ITGB4 ITGA6 GALK1
3 junctional epidermolysis bullosa inversa 32.5 LAMC2 LAMC1
4 epidermolysis bullosa junctionalis with pyloric atresia 31.9 PLEC LAMC2 LAMB3 LAMA4 LAMA3 KRT14
5 epidermolysis bullosa, junctional, non-herlitz type 31.8 PLEC MIR936 LAMC2 LAMB3 LAMA4 LAMA3
6 pemphigoid 31.3 ITGB4 ITGA6 DST COL17A1
7 epidermolysis bullosa 31.2 PLEC LAMC2 LAMB3 LAMA3 KRT14 ITGB4
8 pyloric atresia 31.2 PLEC LAMC2 ITGB4 ITGA6 GALK1 EIF6
9 inherited epidermolysis bullosa 31.2 LAMA3 COL7A1
10 maternal uniparental disomy of chromosome 1 30.6 LAMC2 LAMB3 LAMA3
11 maternal uniparental disomy 30.6 LAMC2 LAMB3 LAMA3
12 uniparental disomy of chromosome 1 30.6 LAMC2 LAMB3 LAMA3
13 epidermolysis bullosa simplex with muscular dystrophy 30.6 PLEC LAMA3 DST COL17A1
14 linear iga disease 30.6 ITGB4 DST COL17A1
15 recessive dystrophic epidermolysis bullosa 30.5 LAMB3 COL7A1 COL17A1
16 aplasia cutis congenita, nonsyndromic 30.5 PLEC ITGB4 ACHE
17 recurrent corneal erosion 30.4 CXCL8 COL17A1
18 bullous skin disease 30.4 PLEC LAMA3 DST COL17A1
19 bullous pemphigoid 30.2 PLEC LAMC2 LAMB3 LAMA3 KRT14 ITGB4
20 kindler syndrome 30.1 PLEC LAMB3 ITGB4 ITGA6 DST COL7A1
21 epidermolysis bullosa simplex 29.9 PLEC LAMA3 KRT14 ITGB4 GALK1 EXPH5
22 epidermolysis bullosa dystrophica 29.7 PLEC LAMC2 LAMB3 LAMA4 LAMA3 KRT14
23 skin disease 29.5 PLEC LAMC2 LAMB3 LAMA3 KRT14 ITGB4
24 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 11.6
25 late-onset junctional epidermolysis bullosa 11.5
26 laryngoonychocutaneous syndrome 11.5
27 epidermolysis bullosa, late-onset localized junctional, with mental retardation 11.4
28 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.3
29 localized junctional epidermolysis bullosa, non-herlitz type 11.3
30 epidermolysis bullosa dystrophica, autosomal dominant 11.3
31 erythrokeratoderma ''en cocardes'' 10.7
32 autosomal recessive disease 10.6
33 alopecia 10.5
34 rare genetic skin disease 10.4
35 chronic ulcer of skin 10.4
36 pyloric stenosis 10.3
37 pompholyx 10.3 DST COL17A1
38 epidermolysis bullosa simplex with pyloric atresia 10.3 PLEC ITGB4
39 lichen planus pemphigoides 10.3 ITGB4 DST COL17A1
40 pemphigoid gestationis 10.3 DST COL17A1
41 helix syndrome 10.2
42 squamous cell carcinoma 10.2
43 amelogenesis imperfecta 10.2
44 skin atrophy 10.2
45 gastric dilatation 10.2
46 intestinal obstruction 10.2
47 polyhydramnios 10.2
48 muscular dystrophy 10.2
49 refractory anemia 10.2
50 subcorneal pustular dermatosis 10.2 DST COL17A1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 ACHE COL7A1 EIF6 ITGA6 ITGB4 KRT14
2 craniofacial MP:0005382 9.97 ACHE COL7A1 ITGA6 ITGB4 KRT14 LAMA3
3 digestive/alimentary MP:0005381 9.92 COL7A1 ITGA6 ITGB4 KRT14 LAMA3 LAMB3
4 integument MP:0010771 9.85 COL7A1 ITGA6 ITGB4 KRT14 LAMA3 LAMA4
5 mortality/aging MP:0010768 9.8 ACHE COL7A1 EIF6 ITGA6 ITGB4 KRT14
6 respiratory system MP:0005388 9.28 ACHE ITGA6 ITGB4 KRT14 LAMA3 LAMB3

Drugs & Therapeutics for Junctional Epidermolysis Bullosa

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Gentamicins Phase 1, Phase 2
2 Anti-Infective Agents Phase 1, Phase 2
3 Antibiotics, Antitubercular Phase 1, Phase 2
4 Anti-Bacterial Agents Phase 1, Phase 2
5 Anesthetics Phase 1, Phase 2
6 Anesthetics, General Phase 1, Phase 2
7 Anti-Inflammatory Agents Phase 1, Phase 2
8 Diacetylrhein Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Prospective, Multicenter, Within Subject Controlled Study to Evaluate the Effect of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa Terminated NCT00587223 Phase 3
2 A Randomized,Single-Blind, Placebo-controlled, Self-matched Pairing, Independent Evaluated Study to Evaluate the Efficacy and Safety of RGN-137 Topical Gel in Subjects With Junctional and Dystrophic Epidermolysis Bullosa (CELEB) Recruiting NCT03578029 Phase 2 RGN-137;Placebo
3 A Pilot Study of the Restoration of Functional Laminin 332 in JEB Patients With Nonsense Mutations After Topical and Intravenous Gentamicin Treatment Recruiting NCT03526159 Phase 1, Phase 2 Gentamicin Sulfate
4 Optimization of Intravenous Gentamicin Treatment to Restore Functional Laminin 332 in JEB Patients With Nonsense Mutations Recruiting NCT04140786 Phase 1, Phase 2 Gentamicin Sulfate, Injectable
5 Prospective, Open-label, Uncontrolled Clinical Trial to Assess the Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified With a Gamma-retroviral (rv) Vector Carrying COL17A1 cDNA for Restoration of Epidermis in Patients With Junctional Epidermolysis Bullosa Active, not recruiting NCT03490331 Phase 1, Phase 2
6 A Multi-Center Study to Evaluate the Pharmacokinetics of Diacerein and Rhein and the Safety of Diacerein After Maximum Use, Topical Administration of CCP-020 (Diacerein 1% Ointment) to Patients With Epidermolysis Bullosa (EB) Completed NCT03472287 Phase 1 Diacerein 1% Ointment
7 Computational Drug Repurposing for All Epidermolysis Bullosa Simplex (EBS) Cases Active, not recruiting NCT03269474
8 Genotype Phenotype Correlations in Junctional Epidermolysis Bullosa: a Pilot Study for an Online Database Not yet recruiting NCT04727268

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:

# Genetic test Affiliating Genes
1 Junctional Epidermolysis Bullosa 29

Anatomical Context for Junctional Epidermolysis Bullosa

MalaCards organs/tissues related to Junctional Epidermolysis Bullosa:

40
Skin, Bone, Bone Marrow, Breast, Eye, Kidney, Lung

Publications for Junctional Epidermolysis Bullosa

Articles related to Junctional Epidermolysis Bullosa:

(show top 50) (show all 574)
# Title Authors PMID Year
1
In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa. 61 54 25 6
11296269 2001
2
Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. 25 6 54 61
11023379 2000
3
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. 6 61 25 54
9767254 1998
4
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. 25 54 6 61
9326326 1997
5
Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa. 61 25 6
27375110 2016
6
Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa. 61 25 6
22931927 2013
7
Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. 61 25 6
15373767 2004
8
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. 61 6 25
11810295 2002
9
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. 25 6
16473856 2006
10
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. 6 54 61
9242513 1997
11
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. 61 6 54
8824879 1996
12
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. 6 61 54
7698759 1994
13
Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia. 61 6
29900604 2019
14
Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor-like motif 2 of the β3 short arm. 61 6
28561256 2018
15
Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. 54 61 25
18955862 2008
16
Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population. 6 61
17916201 2008
17
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. 61 25 54
17476356 2007
18
Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta. 25 61 54
16820943 2006
19
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. 25 61 54
16252234 2005
20
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. 61 6
15538630 2005
21
A very mild form of non-Herlitz junctional epidermolysis bullosa: BP180 rescue by outsplicing of mutated exon 30 coding for the COL15 domain. 61 25 54
15009107 2004
22
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. 54 61 25
14705814 2003
23
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. 25 54 61
12915477 2003
24
Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. 6 61
11689492 2001
25
Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. 54 61 25
11564184 2001
26
Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation. 61 54 25
11406649 2001
27
DNA based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa. 6 61
11298117 2001
28
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. 54 25 61
11251584 2001
29
A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa. 54 61 25
11168815 2001
30
Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects. 6 61
11451332 2001
31
Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. 25 54 61
10951251 2000
32
A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? 54 25 61
10792571 2000
33
Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. 25 54 61
10469327 1999
34
A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination. 61 54 25
9804362 1998
35
Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene. 61 25 54
9583749 1998
36
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. 25 54 61
9501007 1998
37
Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia. 25 54 61
9194858 1997
38
Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. 54 25 61
9158140 1997
39
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. 61 25 54
8618022 1996
40
Infant mortality: the contribution of genetic disorders. 6
31395954 2019
41
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. 61 25
30046887 2018
42
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa. 25 61
29334134 2018
43
Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications. 6
28830826 2017
44
Regeneration of the entire human epidermis using transgenic stem cells. 25 61
29144448 2017
45
Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. 61 25
27607025 2017
46
Amelioration of junctional epidermolysis bullosa due to exon skipping. 25 61
26708078 2016
47
Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency. 25 61
27827380 2016
48
Splicing abnormality of integrin β4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome. 25 61
25728941 2015
49
A new mouse model of junctional epidermolysis bullosa: the LAMB3 628G>A knockin mouse. 61 25
25350318 2015
50
Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta. 61 25
25769099 2015

Variations for Junctional Epidermolysis Bullosa

ClinVar genetic disease variations for Junctional Epidermolysis Bullosa:

6 (show top 50) (show all 324)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAMC2 NM_005562.3(LAMC2):c.1782_1783del (p.Lys594fs) Deletion Pathogenic 550635 rs1553266871 GRCh37: 1:183200163-183200164
GRCh38: 1:183231028-183231029
2 LAMB3 NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) SNV Pathogenic 14539 rs80356682 GRCh37: 1:209799066-209799066
GRCh38: 1:209625721-209625721
3 LAMB3 NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) SNV Pathogenic 35480 rs80356681 GRCh37: 1:209806023-209806023
GRCh38: 1:209632678-209632678
4 LAMB3 NM_000228.3(LAMB3):c.241C>T (p.Arg81Ter) SNV Pathogenic 419475 rs1064793896 GRCh37: 1:209811936-209811936
GRCh38: 1:209638591-209638591
5 LAMC2 NM_005562.3(LAMC2):c.733C>T (p.Arg245Ter) SNV Pathogenic/Likely pathogenic 14559 rs118203901 GRCh37: 1:183191316-183191316
GRCh38: 1:183222181-183222181
6 LAMC2 NM_005562.3(LAMC2):c.1066+1G>T SNV Likely pathogenic 632872 rs1558092158 GRCh37: 1:183194856-183194856
GRCh38: 1:183225721-183225721
7 LAMB3 NM_000228.3(LAMB3):c.1132+5G>A SNV Likely pathogenic 265229 rs770302956 GRCh37: 1:209803077-209803077
GRCh38: 1:209629732-209629732
8 COL17A1 NM_000494.4(COL17A1):c.3539dup (p.Gly1181fs) Duplication Likely pathogenic 973530 GRCh37: 10:105795100-105795101
GRCh38: 10:104035342-104035343
9 LAMB3 NM_000228.3(LAMB3):c.1117C>T (p.Gln373Ter) SNV Likely pathogenic 371216 rs1057517096 GRCh37: 1:209803097-209803097
GRCh38: 1:209629752-209629752
10 COL17A1 NM_000494.4(COL17A1):c.3821_3829delinsC (p.Gly1274fs) Indel Likely pathogenic 517463 rs1210666598 GRCh37: 10:105794030-105794038
GRCh38: 10:104034272-104034280
11 LAMB3 NM_000228.3(LAMB3):c.2685_2701+2del Deletion Likely pathogenic 667377 rs1571803654 GRCh37: 1:209795879-209795897
GRCh38: 1:209622534-209622552
12 LAMB3 NM_000228.3(LAMB3):c.*279G>A SNV Uncertain significance 874109 GRCh37: 1:209788337-209788337
GRCh38: 1:209614992-209614992
13 LAMC2 NM_005562.3(LAMC2):c.2221-1G>A SNV Uncertain significance 631581 rs1558096586 GRCh37: 1:183203501-183203501
GRCh38: 1:183234366-183234366
14 LAMB3 NM_000228.3(LAMB3):c.2011del (p.Leu671fs) Deletion Uncertain significance 370862 rs1057516822 GRCh37: 1:209797311-209797311
GRCh38: 1:209623966-209623966
15 LAMB3 NM_000228.3(LAMB3):c.298+2T>C SNV Uncertain significance 371487 rs1057517312 GRCh37: 1:209811877-209811877
GRCh38: 1:209638532-209638532
16 LAMB3 NM_000228.3(LAMB3):c.*224G>A SNV Uncertain significance 874111 GRCh37: 1:209788392-209788392
GRCh38: 1:209615047-209615047
17 LAMB3 NM_000228.3(LAMB3):c.1151A>G (p.Asp384Gly) SNV Uncertain significance 874268 GRCh37: 1:209801517-209801517
GRCh38: 1:209628172-209628172
18 LAMC2 NM_005562.3(LAMC2):c.*405C>T SNV Uncertain significance 874316 GRCh37: 1:183212940-183212940
GRCh38: 1:183243805-183243805
19 LAMB3 NM_000228.3(LAMB3):c.475C>T (p.Arg159Trp) SNV Uncertain significance 874325 GRCh37: 1:209807881-209807881
GRCh38: 1:209634536-209634536
20 LAMB3 NM_000228.3(LAMB3):c.373-15C>T SNV Uncertain significance 874326 GRCh37: 1:209807998-209807998
GRCh38: 1:209634653-209634653
21 LAMC2 NM_005562.3(LAMC2):c.*1650A>G SNV Uncertain significance 874375 GRCh37: 1:183214185-183214185
GRCh38: 1:183245050-183245050
22 LAMB3 NM_000228.3(LAMB3):c.*132G>A SNV Uncertain significance 874113 GRCh37: 1:209788484-209788484
GRCh38: 1:209615139-209615139
23 LAMB3 NM_000228.3(LAMB3):c.*124C>T SNV Uncertain significance 874114 GRCh37: 1:209788492-209788492
GRCh38: 1:209615147-209615147
24 LAMC2 NM_005562.3(LAMC2):c.48G>T (p.Leu16=) SNV Uncertain significance 874155 GRCh37: 1:183155535-183155535
GRCh38: 1:183186400-183186400
25 LAMC2 NM_005562.3(LAMC2):c.80T>C (p.Val27Ala) SNV Uncertain significance 874156 GRCh37: 1:183177016-183177016
GRCh38: 1:183207881-183207881
26 LAMB3 NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp) SNV Uncertain significance 550265 rs2229467 GRCh37: 1:209791341-209791341
GRCh38: 1:209617996-209617996
27 LAMB3 NM_000228.3(LAMB3):c.2945A>G (p.Asp982Gly) SNV Uncertain significance 556000 rs140769823 GRCh37: 1:209791358-209791358
GRCh38: 1:209618013-209618013
28 LAMC2 NM_005562.3(LAMC2):c.1032A>C (p.Thr344=) SNV Uncertain significance 874206 GRCh37: 1:183194821-183194821
GRCh38: 1:183225686-183225686
29 LAMC2 NM_005562.3(LAMC2):c.1036C>G (p.Leu346Val) SNV Uncertain significance 874207 GRCh37: 1:183194825-183194825
GRCh38: 1:183225690-183225690
30 LAMC2 NM_005562.3(LAMC2):c.1074G>A (p.Gly358=) SNV Uncertain significance 757531 rs145811533 GRCh37: 1:183195840-183195840
GRCh38: 1:183226705-183226705
31 LAMC2 NM_005562.3(LAMC2):c.1215G>A (p.Ala405=) SNV Uncertain significance 721950 rs774558289 GRCh37: 1:183195981-183195981
GRCh38: 1:183226846-183226846
32 LAMB3 NM_000228.3(LAMB3):c.1970C>A (p.Ser657Tyr) SNV Uncertain significance 874216 GRCh37: 1:209798999-209798999
GRCh38: 1:209625654-209625654
33 LAMB3 NM_000228.3(LAMB3):c.1793G>A (p.Arg598His) SNV Uncertain significance 874217 GRCh37: 1:209799176-209799176
GRCh38: 1:209625831-209625831
34 LAMC2 NM_005562.3(LAMC2):c.2658C>G (p.Thr886=) SNV Uncertain significance 874260 GRCh37: 1:183206543-183206543
GRCh38: 1:183237408-183237408
35 LAMC2 NM_005562.3(LAMC2):c.2777G>A (p.Arg926His) SNV Uncertain significance 874261 GRCh37: 1:183207464-183207464
GRCh38: 1:183238329-183238329
36 LAMC2 NM_005562.3(LAMC2):c.739G>C (p.Asp247His) SNV Uncertain significance 293996 rs773715293 GRCh37: 1:183191322-183191322
GRCh38: 1:183222187-183222187
37 LAMB3 NM_000228.3(LAMB3):c.1670C>T (p.Pro557Leu) SNV Uncertain significance 295100 rs746700898 GRCh37: 1:209799299-209799299
GRCh38: 1:209625954-209625954
38 LAMC2 NM_005562.3(LAMC2):c.2634G>A (p.Ala878=) SNV Uncertain significance 294010 rs148925665 GRCh37: 1:183206519-183206519
GRCh38: 1:183237384-183237384
39 LAMB3 NM_000228.3(LAMB3):c.2564C>G (p.Ala855Gly) SNV Uncertain significance 295085 rs151006337 GRCh37: 1:209796018-209796018
GRCh38: 1:209622673-209622673
40 LAMB3 NM_000228.3(LAMB3):c.271C>A (p.Pro91Thr) SNV Uncertain significance 295143 rs371036275 GRCh37: 1:209811906-209811906
GRCh38: 1:209638561-209638561
41 LAMB3 NM_000228.3(LAMB3):c.1615C>T (p.Arg539Trp) SNV Uncertain significance 295103 rs200300715 GRCh37: 1:209799354-209799354
GRCh38: 1:209626009-209626009
42 LAMB3 NM_000228.3(LAMB3):c.1565G>A (p.Arg522Gln) SNV Uncertain significance 295105 rs144249951 GRCh37: 1:209800244-209800244
GRCh38: 1:209626899-209626899
43 LAMC2 NM_005562.3(LAMC2):c.*1647A>G SNV Uncertain significance 294058 rs886045644 GRCh37: 1:183214182-183214182
GRCh38: 1:183245047-183245047
44 LAMC2 NM_005562.3(LAMC2):c.1147A>G (p.Ile383Val) SNV Uncertain significance 294002 rs199729402 GRCh37: 1:183195913-183195913
GRCh38: 1:183226778-183226778
45 LAMB3 NM_000228.3(LAMB3):c.3211G>A (p.Ala1071Thr) SNV Uncertain significance 295066 rs746310687 GRCh37: 1:209790772-209790772
GRCh38: 1:209617427-209617427
46 LAMB3 NM_000228.3(LAMB3):c.1807C>T (p.Arg603Cys) SNV Uncertain significance 295098 rs374239232 GRCh37: 1:209799162-209799162
GRCh38: 1:209625817-209625817
47 LAMB3 NM_000228.3(LAMB3):c.582G>T (p.Met194Ile) SNV Uncertain significance 295133 rs75876132 GRCh37: 1:209806461-209806461
GRCh38: 1:209633116-209633116
48 LAMC2 NM_005562.3(LAMC2):c.*297C>A SNV Uncertain significance 294026 rs886045631 GRCh37: 1:183212832-183212832
GRCh38: 1:183243697-183243697
49 LAMC2 NM_005562.3(LAMC2):c.-39C>T SNV Uncertain significance 293980 rs567581742 GRCh37: 1:183155449-183155449
GRCh38: 1:183186314-183186314
50 LAMC2 NM_005562.3(LAMC2):c.954-15T>C SNV Uncertain significance 293999 rs370813334 GRCh37: 1:183194728-183194728
GRCh38: 1:183225593-183225593

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 KEGG:

36
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512
3 Cell adhesion molecules hsa04514
4 Regulation of actin cytoskeleton hsa04810

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

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3
2
Show member pathways
13.4 MMP9 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4
3
Show member pathways
13.12 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3
4
Show member pathways
13.01 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3
5
Show member pathways
12.93 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3
6 12.89 MMP9 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4
7
Show member pathways
12.85 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3
8
Show member pathways
12.71 PLEC MIR936 LAMC2 LAMB3 LAMA3 ITGB4
9
Show member pathways
12.63 PLEC MMP9 MIR936 LAMC2 LAMB3 LAMA3
10
Show member pathways
12.52 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3
11
Show member pathways
12.32 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3
12
Show member pathways
12.14 LAMC1 LAMA4 LAMA3 ITGB4 ITGA6
13
Show member pathways
12.12 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3
14
Show member pathways
12.12 PLEC MMP9 MIR936 LAMC2 LAMC1 LAMB3
15 12.07 PLEC MMP9 LAMC1 ITGB4 ITGA6
16 11.96 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3
17 11.88 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3
18
Show member pathways
11.84 PLEC KRT14 DST
19 11.66 LAMC1 LAMB1 LAMA4 LAMA3
20 11.54 LAMC1 LAMB1 LAMA4 ITGB4 ITGA6
21 11.4 MMP9 LAMA3 ITGB4 CXCL8
22 11.39 MMP9 LAMC1 LAMB1
23 11.34 MMP9 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4
24 11.31 LAMC2 LAMC1 LAMB1
25 11.28 ITGB4 ITGA6 COL17A1
26 10.91 LAMA3 CXCL8
27 10.9 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3

GO Terms for Junctional Epidermolysis Bullosa

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10.1 MMP9 LAMC2 LAMC1 LAMB1 CXCL8 COL7A1
2 extracellular exosome GO:0070062 10.07 PLEC MMP9 LAMC1 LAMB1 LAMA4 LAMA3
3 extracellular region GO:0005576 10 MMP9 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4
4 endoplasmic reticulum lumen GO:0005788 9.83 LAMC1 LAMB1 COL7A1 COL17A1
5 extracellular matrix GO:0031012 9.81 MMP9 LAMC2 LAMC1 COL17A1
6 intermediate filament GO:0005882 9.76 PLEC KRT14 EIF6 DST
7 collagen-containing extracellular matrix GO:0062023 9.61 MMP9 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4
8 synaptic cleft GO:0043083 9.54 LAMA4 ACHE
9 laminin complex GO:0043256 9.48 LAMB3 LAMB1
10 hemidesmosome GO:0030056 9.46 PLEC ITGB4 DST COL17A1
11 laminin-10 complex GO:0043259 9.43 LAMC1 LAMB1
12 laminin-1 complex GO:0005606 9.4 LAMC1 LAMB1
13 basement membrane GO:0005604 9.36 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3
14 laminin-2 complex GO:0005607 9.32 LAMC2 LAMB1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.9 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3
2 positive regulation of cell migration GO:0030335 9.85 MMP9 LAMC2 LAMB1 ITGA6
3 cell migration GO:0016477 9.85 LAMC1 LAMB3 LAMB1 LAMA3 ITGB4
4 epidermis development GO:0008544 9.85 LAMC2 LAMB3 LAMA3 KRT14 COL7A1 COL17A1
5 animal organ morphogenesis GO:0009887 9.8 LAMC2 LAMC1 LAMB3 LAMB1 LAMA3
6 integrin-mediated signaling pathway GO:0007229 9.73 LAMA3 ITGB4 ITGA6 DST
7 tissue development GO:0009888 9.72 LAMC2 LAMC1 LAMB3 LAMB1 LAMA3
8 substrate adhesion-dependent cell spreading GO:0034446 9.67 LAMC1 LAMB3 LAMB1
9 regulation of cell adhesion GO:0030155 9.65 LAMA4 LAMA3 CXCL8
10 endodermal cell differentiation GO:0035987 9.65 MMP9 LAMB3 LAMB1 LAMA3 COL7A1
11 hemidesmosome assembly GO:0031581 9.65 PLEC LAMC2 LAMC1 LAMB3 LAMA3 KRT14
12 regulation of embryonic development GO:0045995 9.56 LAMA4 LAMA3
13 skin morphogenesis GO:0043589 9.54 ITGB4 ITGA6
14 basement membrane assembly GO:0070831 9.52 LAMB3 LAMB1
15 nail development GO:0035878 9.51 ITGB4 ITGA6
16 extracellular matrix organization GO:0030198 9.36 MMP9 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.46 LAMB1 LAMA3 ITGB4 DST
2 structural molecule activity GO:0005198 9.43 PLEC LAMB3 LAMB1 LAMA3 KRT14 DST
3 insulin-like growth factor I binding GO:0031994 9.32 ITGB4 ITGA6
4 neuregulin binding GO:0038132 9.26 ITGB4 ITGA6
5 extracellular matrix structural constituent GO:0005201 9.17 LAMC2 LAMC1 LAMB3 LAMB1 LAMA4 LAMA3

Sources for Junctional Epidermolysis Bullosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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