MCID: JNC002
MIFTS: 22

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 53
Jeb-I 53 73
Epidermolysis Bullosa Inversa Dystrophica 73

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. 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, and related phenotypes are nail dystrophy and abnormal blistering of the 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 28.7 LAMC1 LAMC2
2 epidermolysis bullosa, junctional, non-herlitz type 11.4
3 epidermolysis bullosa 10.3

Symptoms & Phenotypes for Junctional Epidermolysis Bullosa Inversa

Human phenotypes related to Junctional Epidermolysis Bullosa Inversa:

32
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 32 frequent (33%) HP:0008404
2 abnormal blistering of the skin 32 hallmark (90%) HP:0008066
3 milia 32 frequent (33%) HP:0001056
4 atrophic scars 32 frequent (33%) HP:0001075

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:

41
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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 LAMC1 LAMC2
2
Show member pathways
12.35 LAMC1 LAMC2
3
Show member pathways
12.28 LAMC1 LAMC2
4 12.22 LAMC1 LAMC2
5
Show member pathways
12.18 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
11.54 LAMC1 LAMC2
10 11.3 LAMC1 LAMC2
11 11.23 LAMC1 LAMC2
12
Show member pathways
10.98 LAMC1 LAMC2
13 10.74 LAMC1 LAMC2
14 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 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
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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