MCID: JNC002
MIFTS: 23

Junctional Epidermolysis Bullosa Inversa

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 49
Jeb-I 49 69
Epidermolysis Bullosa Inversa Dystrophica 69

Classifications:



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, and has symptoms including milia, atrophic scars and abnormal blistering of the skin. 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. Affiliated tissues include skin.

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 29.3 LAMC1 LAMC2
2 epidermolysis bullosa, junctional, non-herlitz type 11.4
3 epidermolysis bullosa 10.1

Symptoms & Phenotypes for Junctional Epidermolysis Bullosa Inversa

Human phenotypes related to Junctional Epidermolysis Bullosa Inversa:

31
# Description HPO Frequency HPO Source Accession
1 milia 31 frequent (33%) HP:0001056
2 atrophic scars 31 frequent (33%) HP:0001075
3 abnormal blistering of the skin 31 hallmark (90%) HP:0008066
4 nail dystrophy 31 frequent (33%) HP:0008404

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

MalaCards organs/tissues related to Junctional Epidermolysis Bullosa Inversa:

38
Skin

Publications for Junctional Epidermolysis Bullosa Inversa

Articles related to Junctional Epidermolysis Bullosa Inversa:

# Title Authors Year
1
Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1. ( 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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 LAMC1 LAMC2
2
Show member pathways
12.37 LAMC1 LAMC2
3
Show member pathways
12.3 LAMC1 LAMC2
4 12.23 LAMC1 LAMC2
5
Show member pathways
12.19 LAMC1 LAMC2
6
Show member pathways
12.11 LAMC1 LAMC2
7
Show member pathways
11.78 LAMC1 LAMC2
8
Show member pathways
11.68 LAMC1 LAMC2
9
Show member pathways
11.58 LAMC1 LAMC2
10
Show member pathways
11.54 LAMC1 LAMC2
11 11.3 LAMC1 LAMC2
12 11.23 LAMC1 LAMC2
13
Show member pathways
10.98 LAMC1 LAMC2
14 10.74 LAMC1 LAMC2
15 10.43 LAMC1 LAMC2
16 10.14 LAMC1 LAMC2

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 proteinaceous extracellular matrix GO:0005578 8.96 LAMC1 LAMC2
2 basement membrane GO:0005604 8.62 LAMC1 LAMC2

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 9.26 LAMC1 LAMC2
2 extracellular matrix organization GO:0030198 9.16 LAMC1 LAMC2
3 extracellular matrix disassembly GO:0022617 8.96 LAMC1 LAMC2
4 hemidesmosome assembly GO:0031581 8.62 LAMC1 LAMC2

Sources for Junctional Epidermolysis Bullosa Inversa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....