MCID: EPD082
MIFTS: 24

Epidermolytic Nevus

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Epidermolytic Nevus

MalaCards integrated aliases for Epidermolytic Nevus:

Name: Epidermolytic Nevus 60
Epidermolytic Epidermal Nevus 60 74
Epidermal Nevus with Epidermolytic Hyperkeratosis 60
Epidermolytic Verrucous Epidermal Nevus 60

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Orphanet 60 ORPHA497737
UMLS 74 C1302848

Summaries for Epidermolytic Nevus

MalaCards based summary : Epidermolytic Nevus, also known as epidermolytic epidermal nevus, is related to nevus, epidermal and inflammatory linear verrucous epidermal nevus. An important gene associated with Epidermolytic Nevus is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Downstream signaling of activated FGFR2. Affiliated tissues include skin and lung, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Epidermolytic Nevus

Diseases related to Epidermolytic Nevus via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nevus, epidermal 32.4 FGFR3 NRAS
2 inflammatory linear verrucous epidermal nevus 10.5
3 epidermolytic hyperkeratosis 10.4
4 ichthyosis 10.0
5 psoriasis 10.0
6 renal cell carcinoma, papillary, 1 9.7 FGFR3 NRAS
7 bladder urothelial carcinoma 9.7 FGFR3 NRAS
8 myeloma, multiple 9.6 FGFR3 NRAS
9 lung cancer susceptibility 3 9.5 FGFR3 NRAS

Graphical network of the top 20 diseases related to Epidermolytic Nevus:



Diseases related to Epidermolytic Nevus

Symptoms & Phenotypes for Epidermolytic Nevus

GenomeRNAi Phenotypes related to Epidermolytic Nevus according to GeneCards Suite gene sharing:

27 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.8 FGFR3 NRAS
2 Decreased viability GR00221-A-2 9.8 FGFR3
3 Decreased viability GR00221-A-3 9.8 FGFR3 NRAS
4 Decreased viability GR00402-S-2 9.8 FGFR3 NRAS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.4 FGFR3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.4 NRAS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.4 FGFR3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.4 NRAS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.4 NRAS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.4 NRAS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.4 NRAS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.4 FGFR3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.4 NRAS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.4 FGFR3 NRAS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.4 FGFR3
16 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.16 FGFR3 NRAS

Drugs & Therapeutics for Epidermolytic Nevus

Search Clinical Trials , NIH Clinical Center for Epidermolytic Nevus

Genetic Tests for Epidermolytic Nevus

Anatomical Context for Epidermolytic Nevus

MalaCards organs/tissues related to Epidermolytic Nevus:

42
Skin, Lung

Publications for Epidermolytic Nevus

Articles related to Epidermolytic Nevus:

# Title Authors Year
1
A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline. ( 28532675 )
2017
2
Localized linear epidermolytic epidermal nevus of male genitalia with a recurrent keratin 10 mutation, p.Arg156His. ( 24001792 )
2013
3
Linear psoriasis and systematized epidermolytic nevus. ( 7065686 )
1982

Variations for Epidermolytic Nevus

Expression for Epidermolytic Nevus

Search GEO for disease gene expression data for Epidermolytic Nevus.

Pathways for Epidermolytic Nevus

Pathways related to Epidermolytic Nevus according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.36 FGFR3 NRAS
2
Show member pathways
12.36 FGFR3 NRAS
3 12.34 FGFR3 NRAS
4 12.26 FGFR3 NRAS
5
Show member pathways
12.23 FGFR3 NRAS
6
Show member pathways
12.22 FGFR3 NRAS
7
Show member pathways
12.19 FGFR3 NRAS
8 12.12 FGFR3 NRAS
9 12.01 FGFR3 NRAS
10
Show member pathways
11.99 FGFR3 NRAS
11
Show member pathways
11.92 FGFR3 NRAS
12
Show member pathways
11.9 FGFR3 NRAS
13
Show member pathways
11.88 FGFR3 NRAS
14
Show member pathways
11.72 FGFR3 NRAS
15
Show member pathways
11.66 FGFR3 NRAS
16
Show member pathways
11.62 FGFR3 NRAS
17
Show member pathways
11.58 FGFR3 NRAS
18 11.56 FGFR3 NRAS
19
Show member pathways
11.52 FGFR3 NRAS
20 11.4 FGFR3 NRAS
21 11.24 FGFR3 NRAS
22 11.02 FGFR3 NRAS
23 10.87 FGFR3 NRAS
24 10.77 FGFR3 NRAS
25 10.26 FGFR3 NRAS

GO Terms for Epidermolytic Nevus

Biological processes related to Epidermolytic Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 8.62 FGFR3 NRAS

Molecular functions related to Epidermolytic Nevus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 8.62 FGFR3 NRAS

Sources for Epidermolytic Nevus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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