JEB
MCID: JNC001
MIFTS: 49

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 24 53 25 15 73
Epidermolysis Bullosa, Junctional 76 53 25 37 29 6 44
Jeb 53 25
Congenital Junctional Epidermolysis Bullosa 12
Epidermolysis Bullosa Atrophicans 53
Epidermolysis Bullosa Junctional 55

Characteristics:

GeneReviews:

24
Penetrance Pathogenic variants in lamb3, lama3, lamc2, and col17a1 are 100% penetrant in individuals who have two variants on different alleles in the same gene...

Classifications:



External Ids:

Disease Ontology 12 DOID:3209
MeSH 44 D016109
NCIt 50 C90598
KEGG 37 H00586
UMLS 73 C0079301

Summaries for Junctional Epidermolysis Bullosa

NIH Rare Diseases : 53 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.

MalaCards based summary : Junctional Epidermolysis Bullosa, also known as epidermolysis bullosa, junctional, is related to epidermolysis bullosa, junctional, herlitz type and junctional epidermolysis bullosa inversa. An important gene associated with Junctional Epidermolysis Bullosa is COL17A1 (Collagen Type XVII Alpha 1 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Anti-Infective Agents and Antibiotics, Antitubercular have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and kidney, and related phenotypes are craniofacial and digestive/alimentary

Genetics Home Reference : 25 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.

Wikipedia : 76 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 57)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa, junctional, herlitz type 33.9 LAMA3 LAMB3 LAMC2
2 junctional epidermolysis bullosa inversa 33.9 LAMC1 LAMC2
3 epidermolysis bullosa junctionalis with pyloric atresia 33.0 COL17A1 DST ITGA6 ITGB4
4 epidermolysis bullosa with pyloric atresia 32.8 ITGA6 ITGB4
5 epidermolysis bullosa, junctional, non-herlitz type 32.4 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
6 epidermolysis bullosa 31.6 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
7 epidermolysis bullosa acquisita 31.5 COL17A1 DST ITGB4 LAMA3
8 pyloric atresia 30.9 COL17A1 ITGA6 ITGB4 LAMC2
9 maternal uniparental disomy of chromosome 1 30.1 LAMA3 LAMB3 LAMC2
10 epidermolysis bullosa simplex with muscular dystrophy 30.0 COL17A1 DST
11 epidermolysis bullosa simplex 29.9 COL17A1 DST ITGB4
12 kindler syndrome 29.9 DST ITGB4
13 bullous pemphigoid 29.2 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
14 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 12.6
15 late-onset junctional epidermolysis bullosa 12.6
16 localized junctional epidermolysis bullosa, non-herlitz type 12.4
17 epidermolysis bullosa, late-onset localized junctional, with mental retardation 11.4
18 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 11.4
19 epidermolysis bullosa dystrophica, autosomal dominant 11.4
20 aplasia cutis congenita of limbs recessive 11.4
21 laryngoonychocutaneous syndrome 11.0
22 squamous cell carcinoma 10.3
23 pyloric stenosis 10.2
24 muscular dystrophy 10.2
25 duodenal atresia 10.1
26 aging 10.1
27 muscular dystrophy, congenital, lmna-related 10.1
28 chronic ulcer of skin 10.1
29 amelogenesis imperfecta 10.1
30 polycystic kidney disease 10.1
31 protein-losing enteropathy 10.1
32 nephrotic syndrome 10.1
33 urethral stricture 10.1
34 rhabdoid cancer 10.1
35 kidney disease 10.1
36 autosomal dominant polycystic kidney disease 10.1
37 lichen planus 9.9 COL17A1 DST
38 aplasia cutis congenita 9.9 ITGA6 ITGB4
39 pemphigoid gestationis 9.9 COL17A1 DST
40 ocular cicatricial pemphigoid 9.9 ITGA6 ITGB4
41 neurotic excoriation 9.9 COL17A1 DST
42 herpes gestationis 9.9 COL17A1 DST
43 lichen disease 9.9 COL17A1 DST
44 ecthyma 9.9 COL17A1 DST
45 subcorneal pustular dermatosis 9.9 COL17A1 DST
46 paraneoplastic pemphigus 9.8 COL17A1 DST
47 pemphigus 9.8 COL17A1 DST
48 bullous skin disease 9.8 COL17A1 DST LAMA3
49 autoimmune disease of skin and connective tissue 9.8 COL17A1 DST LAMA3
50 cellulitis 9.8 COL17A1 DST LAMA3

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 craniofacial MP:0005382 9.65 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
2 digestive/alimentary MP:0005381 9.55 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
3 integument MP:0010771 9.35 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
4 respiratory system MP:0005388 9.1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2

Drugs & Therapeutics for Junctional Epidermolysis Bullosa

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB) Terminated NCT00587223 Phase 3
2 Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis Bullosa Completed NCT02014376 Phase 2 3% SD-101 dermal cream;6% SD-101 dermal cream;Vehicle (0% SD-101)
3 Gentamicin for Junctional Epidermolysis Bullosa Recruiting NCT03526159 Phase 1, Phase 2 Gentamicin Sulfate
4 Clinical Trial to Assess Safety and Efficacy of Autologous Cultured Epidermal Grafts Containing Epidermal Stem Cells Genetically Modified in Patients With JEB (HOLOGENE17) Recruiting NCT03490331 Phase 1, Phase 2
5 Evaluation of the Safety and Efficacy Study of RGN-137 Topical Gel for Junctional and Dystrophic Epidermolysis Bullosa Recruiting NCT03578029 Phase 2 RGN-137;Placebo

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 Epidermolysis Bullosa, Junctional 29

Anatomical Context for Junctional Epidermolysis Bullosa

MalaCards organs/tissues related to Junctional Epidermolysis Bullosa:

41
Skin, Testes, Kidney, Eye, Lung

Publications for Junctional Epidermolysis Bullosa

Articles related to Junctional Epidermolysis Bullosa:

(show top 50) (show all 319)
# Title Authors Year
1
Successful Multidisciplinary Treatment of Chronic Facial Wounds in Junctional Epidermolysis Bullosa. ( 29963681 )
2018
2
Palliative Sedation with Oral Medicines in an Infant with Generalized Severe Junctional Epidermolysis Bullosa. ( 29775550 )
2018
3
Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C>T (p.Arg169*) mutation. ( 29952287 )
2018
4
Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene. ( 29380424 )
2018
5
Gentamicin induces <i>LAMB3</i> nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa. ( 29946029 )
2018
6
A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation. ( 29198538 )
2018
7
Novel compound heterozygous and homozygous variants of laminin subunit I^3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia. ( 29900604 )
2018
8
Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families. ( 29797489 )
2018
9
CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient. ( 30122422 )
2018
10
Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa. ( 30544381 )
2018
11
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. ( 30016581 )
2018
12
Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4. ( 30079450 )
2018
13
Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation. ( 29077994 )
2017
14
Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin EGF-like (LE) motif 2 of the I^3 short arm. ( 28561256 )
2017
15
Junctional Epidermolysis Bullosa (Non-Herlitz Type). ( 28599695 )
2017
16
Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa. ( 28365758 )
2017
17
Colchicine may assist in reducing granulation tissue in junctional epidermolysis bullosa. ( 28492007 )
2016
18
Molecular epidemiology of Junctional Epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance. ( 27480391 )
2016
19
Topical timolol for chronic wounds in patients with junctional epidermolysis bullosa. ( 27846969 )
2016
20
Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India. ( 28087116 )
2016
21
Structural Defects of Laminin I^3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response. ( 27120332 )
2016
22
Images in Anesthesiology: Child with Junctional Epidermolysis Bullosa, Hoarseness, and Nasal Obstruction Demonstrating Severe Laryngeal Stenosis. ( 27755034 )
2016
23
Child with Junctional Epidermolysis Bullosa, Hoarseness, and Nasal Obstruction Demonstrating Severe Laryngeal Stenosis. ( 27272670 )
2016
24
Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. ( 27607025 )
2016
25
Erratum to: Neonatal Junctional Epidermolysis Bullosa: Treatment Conundrums and Ethical Decision Making. ( 27007120 )
2016
26
New versatile monoclonal antibodies against type XVII collagen endodomain for diagnosis and subtyping COL17A1-associated junctional epidermolysis bullosa. ( 26334130 )
2015
27
First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse. ( 25889423 )
2015
28
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4). ( 27186702 )
2015
29
Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa. ( 25935160 )
2015
30
A stop-gain in the laminin, alpha 3 gene causes recessive junctional epidermolysis bullosa in Belgian Blue cattle. ( 26370913 )
2015
31
Generalized severe junctional epidermolysis bullosa with congenital absence of skin in churra lambs. ( 26094555 )
2015
32
Junctional Epidermolysis Bullosa with LAMB3 Splice-site Mutations. ( 25708563 )
2015
33
Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep. ( 25955497 )
2015
34
Amelioration of junctional epidermolysis bullosa due to exon skipping. ( 26708078 )
2015
35
Case of non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation. ( 25573436 )
2015
36
Splicing abnormality of integrin I^4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome. ( 25728941 )
2015
37
Alternative Use of an Oral Endotracheal Tube Fastener in a Patient with Junctional Epidermolysis Bullosa. ( 26638453 )
2015
38
Dermal eosinophilic infiltrate in junctional epidermolysis bullosa. ( 25950805 )
2015
39
ITGB4-associated Junctional Epidermolysis Bullosa without Pylori Atresia but Profound Genito-urinary Involvement. ( 24807042 )
2014
40
A New Mouse Model of Junctional Epidermolysis Bullosa: The LAMB3 628 G&amp;gt;A Knockin Mouse. ( 25350318 )
2014
41
Japanese case of Herlitz junctional epidermolysis bullosa that initially showed a few blisters on the limited area. ( 24617447 )
2014
42
Novel compound heterozygous mutation in LAMC2 genes (c.79G&amp;gt;A and 382insT) in Herlitz junctional epidermolysis bullosa. ( 24533970 )
2014
43
Neonatal junctional epidermolysis bullosa: treatment conundrums and ethical decision making. ( 25117154 )
2014
44
Long-term stability and safety of transgenic cultured epidermal stem cells in gene therapy of junctional epidermolysis bullosa. ( 24511464 )
2014
45
Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice. ( 24550734 )
2014
46
Somatic correction of junctional epidermolysis bullosa by a highly recombinogenic AAV variant. ( 24390279 )
2014
47
Increased levels of matrix metalloproteinase-9 and interleukin-8 in blister fluids of dystrophic and junctional epidermolysis bullosa patients. ( 24533594 )
2014
48
Successful renal transplant in a patient with non-Herlitz junctional epidermolysis bullosa. ( 24635072 )
2014
49
Congenital pyloric atresia, type B; with junctional epidermolysis bullosa. ( 24968903 )
2014
50
Punch grafting of chronic ulcers in patients with laminin-332-deficient, non-Herlitz junctional epidermolysis bullosa. ( 22633040 )
2013

Variations for Junctional Epidermolysis Bullosa

ClinVar genetic disease variations for Junctional Epidermolysis Bullosa:

6 (show top 50) (show all 756)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMC2 NM_005562.2(LAMC2): c.196G> A (p.Glu66Lys) single nucleotide variant Uncertain significance rs146325169 GRCh37 Chromosome 1, 183177132: 183177132
2 LAMC2 NM_005562.2(LAMC2): c.196G> A (p.Glu66Lys) single nucleotide variant Uncertain significance rs146325169 GRCh38 Chromosome 1, 183207997: 183207997
3 LAMC2 NM_005562.2(LAMC2): c.3206C> T (p.Thr1069Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139043074 GRCh37 Chromosome 1, 183209311: 183209311
4 LAMC2 NM_005562.2(LAMC2): c.3206C> T (p.Thr1069Met) single nucleotide variant Conflicting interpretations of pathogenicity rs139043074 GRCh38 Chromosome 1, 183240176: 183240176
5 LAMC2 NM_005562.2(LAMC2): c.268+14A> G single nucleotide variant Benign rs647347 GRCh37 Chromosome 1, 183177218: 183177218
6 LAMC2 NM_005562.2(LAMC2): c.268+14A> G single nucleotide variant Benign rs647347 GRCh38 Chromosome 1, 183208083: 183208083
7 LAMC2 NM_005562.2(LAMC2): c.297C> T (p.Ser99=) single nucleotide variant Benign rs2274980 GRCh37 Chromosome 1, 183184616: 183184616
8 LAMC2 NM_005562.2(LAMC2): c.297C> T (p.Ser99=) single nucleotide variant Benign rs2274980 GRCh38 Chromosome 1, 183215481: 183215481
9 LAMC2 NM_005562.2(LAMC2): c.483C> T (p.Val161=) single nucleotide variant Benign rs1129723 GRCh37 Chromosome 1, 183187603: 183187603
10 LAMC2 NM_005562.2(LAMC2): c.483C> T (p.Val161=) single nucleotide variant Benign rs1129723 GRCh38 Chromosome 1, 183218468: 183218468
11 LAMC2 NM_005562.2(LAMC2): c.798T> G (p.Gly266=) single nucleotide variant Benign rs1047980 GRCh37 Chromosome 1, 183192304: 183192304
12 LAMC2 NM_005562.2(LAMC2): c.798T> G (p.Gly266=) single nucleotide variant Benign rs1047980 GRCh38 Chromosome 1, 183223169: 183223169
13 LAMC2 NM_005562.2(LAMC2): c.2035C> T (p.Leu679Phe) single nucleotide variant Benign/Likely benign rs62640910 GRCh37 Chromosome 1, 183201807: 183201807
14 LAMC2 NM_005562.2(LAMC2): c.2035C> T (p.Leu679Phe) single nucleotide variant Benign/Likely benign rs62640910 GRCh38 Chromosome 1, 183232672: 183232672
15 LAMC2 NM_005562.2(LAMC2): c.2198G> C (p.Ser733Thr) single nucleotide variant Benign/Likely benign rs2296303 GRCh37 Chromosome 1, 183201970: 183201970
16 LAMC2 NM_005562.2(LAMC2): c.2198G> C (p.Ser733Thr) single nucleotide variant Benign/Likely benign rs2296303 GRCh38 Chromosome 1, 183232835: 183232835
17 LAMC2 NM_005562.2(LAMC2): c.2688G> A (p.Gln896=) single nucleotide variant Benign rs1047981 GRCh37 Chromosome 1, 183206573: 183206573
18 LAMC2 NM_005562.2(LAMC2): c.2688G> A (p.Gln896=) single nucleotide variant Benign rs1047981 GRCh38 Chromosome 1, 183237438: 183237438
19 LAMC2 NM_005562.2(LAMC2): c.3367C> T (p.Leu1123=) single nucleotide variant Benign/Likely benign rs587281 GRCh37 Chromosome 1, 183212320: 183212320
20 LAMC2 NM_005562.2(LAMC2): c.3367C> T (p.Leu1123=) single nucleotide variant Benign/Likely benign rs587281 GRCh38 Chromosome 1, 183243185: 183243185
21 LAMB3 NM_000228.2(LAMB3): c.3432A> G (p.Ser1144=) single nucleotide variant Benign rs1049607 GRCh37 Chromosome 1, 209788703: 209788703
22 LAMB3 NM_000228.2(LAMB3): c.3432A> G (p.Ser1144=) single nucleotide variant Benign rs1049607 GRCh38 Chromosome 1, 209615358: 209615358
23 LAMB3 NM_000228.2(LAMB3): c.2777C> A (p.Ala926Asp) single nucleotide variant Benign rs2076222 GRCh37 Chromosome 1, 209791929: 209791929
24 LAMB3 NM_000228.2(LAMB3): c.2777C> A (p.Ala926Asp) single nucleotide variant Benign rs2076222 GRCh38 Chromosome 1, 209618584: 209618584
25 LAMB3 NM_000228.2(LAMB3): c.2702-12dupG duplication Benign rs397807887 GRCh37 Chromosome 1, 209792016: 209792016
26 LAMB3 NM_000228.2(LAMB3): c.2702-12dupG duplication Benign rs397807887 GRCh38 Chromosome 1, 209618671: 209618671
27 LAMB3 NM_000228.2(LAMB3): c.2673A> G (p.Leu891=) single nucleotide variant Benign rs3179860 GRCh38 Chromosome 1, 209622564: 209622564
28 LAMB3 NM_000228.2(LAMB3): c.2673A> G (p.Leu891=) single nucleotide variant Benign rs3179860 GRCh37 Chromosome 1, 209795909: 209795909
29 LAMB3 NM_000228.2(LAMB3): c.2554A> T (p.Met852Leu) single nucleotide variant Benign rs12748250 GRCh37 Chromosome 1, 209796329: 209796329
30 LAMB3 NM_000228.2(LAMB3): c.2554A> T (p.Met852Leu) single nucleotide variant Benign rs12748250 GRCh38 Chromosome 1, 209622984: 209622984
31 LAMB3 NM_000228.2(LAMB3): c.1716T> C (p.Cys572=) single nucleotide variant Benign rs2179402 GRCh37 Chromosome 1, 209799253: 209799253
32 LAMB3 NM_000228.2(LAMB3): c.1716T> C (p.Cys572=) single nucleotide variant Benign rs2179402 GRCh38 Chromosome 1, 209625908: 209625908
33 LAMB3 NM_000228.2(LAMB3): c.1579G> A (p.Val527Met) single nucleotide variant Benign rs2076349 GRCh38 Chromosome 1, 209626885: 209626885
34 LAMB3 NM_000228.2(LAMB3): c.1579G> A (p.Val527Met) single nucleotide variant Benign rs2076349 GRCh37 Chromosome 1, 209800230: 209800230
35 LAMB3 NM_000228.2(LAMB3): c.1149G> A (p.Pro383=) single nucleotide variant Benign rs2076351 GRCh37 Chromosome 1, 209801519: 209801519
36 LAMB3 NM_000228.2(LAMB3): c.1149G> A (p.Pro383=) single nucleotide variant Benign rs2076351 GRCh38 Chromosome 1, 209628174: 209628174
37 LAMB3 NM_000228.2(LAMB3): c.823-15C> T single nucleotide variant Benign rs4844863 GRCh37 Chromosome 1, 209804095: 209804095
38 LAMB3 NM_000228.2(LAMB3): c.823-15C> T single nucleotide variant Benign rs4844863 GRCh38 Chromosome 1, 209630750: 209630750
39 LAMB3 NM_000228.2(LAMB3): c.384C> T (p.Pro128=) single nucleotide variant Benign rs1130667 GRCh38 Chromosome 1, 209634627: 209634627
40 LAMB3 NM_000228.2(LAMB3): c.384C> T (p.Pro128=) single nucleotide variant Benign rs1130667 GRCh37 Chromosome 1, 209807972: 209807972
41 LAMB3 NM_000228.2(LAMB3): c.291A> C (p.Ser97=) single nucleotide variant Benign rs2076356 GRCh37 Chromosome 1, 209811886: 209811886
42 LAMB3 NM_000228.2(LAMB3): c.291A> C (p.Ser97=) single nucleotide variant Benign rs2076356 GRCh38 Chromosome 1, 209638541: 209638541
43 LAMB3 NM_000228.2(LAMB3): c.138C> T (p.Thr46=) single nucleotide variant Benign rs2228339 GRCh37 Chromosome 1, 209823354: 209823354
44 LAMB3 NM_000228.2(LAMB3): c.138C> T (p.Thr46=) single nucleotide variant Benign rs2228339 GRCh38 Chromosome 1, 209650009: 209650009
45 COL17A1 NM_000494.3(COL17A1): c.4109A> G (p.Asp1370Gly) single nucleotide variant Benign rs17116350 GRCh38 Chromosome 10, 104033992: 104033992
46 COL17A1 NM_000494.3(COL17A1): c.4109A> G (p.Asp1370Gly) single nucleotide variant Benign rs17116350 GRCh37 Chromosome 10, 105793750: 105793750
47 COL17A1 NM_000494.3(COL17A1): c.3278-9C> G single nucleotide variant Benign rs2274098 GRCh38 Chromosome 10, 104036641: 104036641
48 COL17A1 NM_000494.3(COL17A1): c.3278-9C> G single nucleotide variant Benign rs2274098 GRCh37 Chromosome 10, 105796399: 105796399
49 COL17A1 NM_000494.3(COL17A1): c.3261T> C (p.Ile1087=) single nucleotide variant Benign rs2476958 GRCh38 Chromosome 10, 104037061: 104037061
50 COL17A1 NM_000494.3(COL17A1): c.3261T> C (p.Ile1087=) single nucleotide variant Benign rs2476958 GRCh37 Chromosome 10, 105796819: 105796819

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:

37
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512
3 Cell adhesion molecules (CAMs) hsa04514
4 Regulation of actin cytoskeleton hsa04810

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

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1
2
Show member pathways
13.24 COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1
3
Show member pathways
12.91 COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1
4
Show member pathways
12.87 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2
5
Show member pathways
12.78 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2
6 12.71 ITGA6 LAMA3 LAMB3 LAMC1 LAMC2
7
Show member pathways
12.69 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2
8
Show member pathways
12.63 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
9
Show member pathways
12.42 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
10
Show member pathways
12.21 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
11
Show member pathways
12.16 ITGA6 LAMA3 LAMB3 LAMC1 LAMC2
12
Show member pathways
12.15 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2
13
Show member pathways
12.08 COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1
14
Show member pathways
12.03 ITGA6 ITGB4 LAMA3 LAMC1
15 11.88 ITGA6 ITGB4 LAMC1
16 11.85 LAMA3 LAMB3 LAMC1 LAMC2
17 11.82 ITGA6 LAMA3 LAMB3 LAMC1 LAMC2
18
Show member pathways
11.81 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2
19 11.61 LAMA3 LAMB3 LAMC1 LAMC2
20 11.42 ITGA6 ITGB4
21 11.39 LAMA3 LAMC1
22 11.38 ITGA6 ITGB4 LAMC1
23 11.25 COL17A1 ITGA6 ITGB4
24 11.16 ITGB4 LAMA3
25 11.14 LAMC1 LAMC2
27
Show member pathways
10.93 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1 LAMC2
28 10.85 COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1

GO Terms for Junctional Epidermolysis Bullosa

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.88 COL17A1 LAMA3 LAMB3 LAMC1 LAMC2
2 focal adhesion GO:0005925 9.63 DST ITGA6 ITGB4
3 extracellular matrix GO:0031012 9.58 COL17A1 LAMC1 LAMC2
4 collagen-containing extracellular matrix GO:0062023 9.56 COL17A1 LAMA3 LAMC1 LAMC2
5 cell leading edge GO:0031252 9.43 DST ITGB4
6 basal plasma membrane GO:0009925 9.37 DST ITGA6
7 integrin complex GO:0008305 9.32 ITGA6 ITGB4
8 hemidesmosome GO:0030056 9.26 COL17A1 DST ITGA6 ITGB4
9 basement membrane GO:0005604 9.17 COL17A1 DST ITGA6 LAMA3 LAMB3 LAMC1
10 laminin-5 complex GO:0005610 9.16 LAMA3 LAMB3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.7 DST ITGA6 ITGB4 LAMA3 LAMB3 LAMC1
2 cell-matrix adhesion GO:0007160 9.58 COL17A1 ITGA6 ITGB4
3 epidermis development GO:0008544 9.56 COL17A1 LAMA3 LAMB3 LAMC2
4 response to wounding GO:0009611 9.55 DST ITGB4
5 skin development GO:0043588 9.54 ITGA6 ITGB4
6 integrin-mediated signaling pathway GO:0007229 9.54 DST ITGA6 ITGB4
7 digestive tract development GO:0048565 9.52 ITGA6 ITGB4
8 endodermal cell differentiation GO:0035987 9.51 LAMA3 LAMB3
9 extracellular matrix organization GO:0030198 9.5 COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC1
10 brown fat cell differentiation GO:0050873 9.49 ITGA6 LAMB3
11 cell motility GO:0048870 9.48 DST ITGB4
12 renal system development GO:0072001 9.46 ITGA6 ITGB4
13 amelogenesis GO:0097186 9.43 ITGA6 ITGB4
14 nail development GO:0035878 9.32 ITGA6 ITGB4
15 hemidesmosome assembly GO:0031581 9.23 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.43 DST LAMA3 LAMB3
2 insulin-like growth factor I binding GO:0031994 9.16 ITGA6 ITGB4
3 neuregulin binding GO:0038132 8.96 ITGA6 ITGB4
4 extracellular matrix structural constituent GO:0005201 8.92 COL17A1 LAMA3 LAMC1 LAMC2

Sources for Junctional Epidermolysis Bullosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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