JEB-I
MCID: JNC002
MIFTS: 22

Junctional Epidermolysis Bullosa Inversa (JEB-I)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Junctional Epidermolysis Bullosa Inversa

MalaCards integrated aliases for Junctional Epidermolysis Bullosa Inversa:

Name: Junctional Epidermolysis Bullosa Inversa 20
Jeb-I 20 70
Epidermolysis Bullosa Inversa Dystrophica 70

Classifications:



External Ids:

UMLS 70 C2673609 C2673610

Summaries for Junctional Epidermolysis Bullosa Inversa

MalaCards based summary : Junctional Epidermolysis Bullosa Inversa, also known as jeb-i, is related to junctional epidermolysis bullosa and epidermolysis bullosa, junctional, non-herlitz type. An important gene associated with Junctional Epidermolysis Bullosa Inversa is LAMC1 (Laminin Subunit Gamma 1), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. Related phenotypes are carious teeth and nail dystrophy

Related Diseases for Junctional Epidermolysis Bullosa Inversa

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

# Related Disease Score Top Affiliating Genes
1 junctional epidermolysis bullosa 29.8 LAMC2 LAMC1
2 epidermolysis bullosa, junctional, non-herlitz type 11.5
3 epidermolysis bullosa 10.3
4 skin disease 10.3
5 macular degeneration, age-related, 1 9.5 LAMC2 LAMC1

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



Diseases related to Junctional Epidermolysis Bullosa Inversa

Symptoms & Phenotypes for Junctional Epidermolysis Bullosa Inversa

Human phenotypes related to Junctional Epidermolysis Bullosa Inversa:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 carious teeth 31 hallmark (90%) HP:0000670
2 nail dystrophy 31 frequent (33%) HP:0008404
3 hypoplasia of dental enamel 31 frequent (33%) HP:0006297
4 fragile skin 31 frequent (33%) HP:0001030
5 atrophic scars 31 frequent (33%) HP:0001075
6 gastrointestinal inflammation 31 occasional (7.5%) HP:0004386
7 milia 31 occasional (7.5%) HP:0001056
8 anonychia 31 occasional (7.5%) HP:0001798
9 oral mucosal blisters 31 occasional (7.5%) HP:0200097
10 hypoplastic dermoepidermal hemidesmosomes 31 occasional (7.5%) HP:0020117

Drugs & Therapeutics for Junctional Epidermolysis Bullosa Inversa

Search Clinical Trials , NIH Clinical Center for Junctional Epidermolysis Bullosa Inversa

Genetic Tests for Junctional Epidermolysis Bullosa Inversa

Anatomical Context for Junctional Epidermolysis Bullosa Inversa

Publications for Junctional Epidermolysis Bullosa Inversa

Articles related to Junctional Epidermolysis Bullosa Inversa:

# Title Authors PMID Year
1
The scaffolding protein Cnk binds to the receptor tyrosine kinase Alk to promote visceral founder cell specification in Drosophila. 61
29066538 2017
2
Prevalence of anemia in patients with epidermolysis bullosa registered in Australia. 61
28491953 2015
3
Keratinocytes from junctional epidermolysis bullosa do adhere and migrate on the basement membrane protein nicein through alpha 3 beta 1 integrin. 61
7967512 1994
4
Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1. 61
7987320 1994

Variations for Junctional Epidermolysis Bullosa Inversa

Expression for Junctional Epidermolysis Bullosa Inversa

Search GEO for disease gene expression data for Junctional Epidermolysis Bullosa Inversa.

Pathways for Junctional Epidermolysis Bullosa Inversa

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 LAMC2 LAMC1
2
Show member pathways
12.36 LAMC2 LAMC1
3
Show member pathways
12.28 LAMC2 LAMC1
4 12.2 LAMC2 LAMC1
5
Show member pathways
12.15 LAMC2 LAMC1
6
Show member pathways
12.09 LAMC2 LAMC1
7
Show member pathways
11.86 LAMC2 LAMC1
8
Show member pathways
11.64 LAMC2 LAMC1
9
Show member pathways
11.51 LAMC2 LAMC1
10 11.27 LAMC2 LAMC1
11 11.12 LAMC2 LAMC1
12 10.74 LAMC2 LAMC1
13 10.4 LAMC2 LAMC1
14 10.14 LAMC2 LAMC1

GO Terms for Junctional Epidermolysis Bullosa Inversa

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.16 LAMC2 LAMC1
2 extracellular matrix GO:0031012 8.96 LAMC2 LAMC1
3 basement membrane GO:0005604 8.62 LAMC2 LAMC1

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.32 LAMC2 LAMC1
2 extracellular matrix organization GO:0030198 9.26 LAMC2 LAMC1
3 animal organ morphogenesis GO:0009887 9.16 LAMC2 LAMC1
4 tissue development GO:0009888 8.96 LAMC2 LAMC1
5 hemidesmosome assembly GO:0031581 8.62 LAMC2 LAMC1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 LAMC2 LAMC1

Sources for Junctional Epidermolysis Bullosa Inversa

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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