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 59
Epidermolytic Epidermal Nevus 59 73
Epidermal Nevus with Epidermolytic Hyperkeratosis 59
Epidermolytic Verrucous Epidermal Nevus 59

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA497737
UMLS 73 C1302848

Summaries for Epidermolytic Nevus

MalaCards based summary : Epidermolytic Nevus, also known as epidermolytic epidermal nevus, is related to nevus, epidermal and epidermolytic hyperkeratosis. 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 32.5 FGFR3 NRAS
2 epidermolytic hyperkeratosis 10.4
3 inflammatory linear verrucous epidermal nevus 10.2
4 ichthyosis 10.0
5 psoriasis 10.0
6 renal cell carcinoma, papillary, 1 9.8 FGFR3 NRAS
7 bladder urothelial carcinoma 9.8 FGFR3 NRAS
8 myeloma, multiple 9.8 FGFR3 NRAS
9 lung cancer susceptibility 3 9.8 FGFR3 NRAS
10 neuroblastoma 9.7 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:

26 (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:

41
Skin, Lung

Publications for Epidermolytic Nevus

Articles related to Epidermolytic Nevus:

# Title Authors Year
1
A Child with Epidermolytic Ichthyosis fromA aA Parent with Epidermolytic Nevus: RiskA Evaluation of Transmission from MosaicA toA 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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 FGFR3 NRAS
2
Show member pathways
12.36 FGFR3 NRAS
3 12.34 FGFR3 NRAS
4
Show member pathways
12.28 FGFR3 NRAS
5 12.27 FGFR3 NRAS
6
Show member pathways
12.23 FGFR3 NRAS
7
Show member pathways
12.22 FGFR3 NRAS
8 12.13 FGFR3 NRAS
9
Show member pathways
12.08 FGFR3 NRAS
10 12.01 FGFR3 NRAS
11
Show member pathways
11.99 FGFR3 NRAS
12
Show member pathways
11.92 FGFR3 NRAS
13
Show member pathways
11.91 FGFR3 NRAS
14
Show member pathways
11.88 FGFR3 NRAS
15
Show member pathways
11.72 FGFR3 NRAS
16
Show member pathways
11.66 FGFR3 NRAS
17
Show member pathways
11.62 FGFR3 NRAS
18
Show member pathways
11.59 FGFR3 NRAS
19 11.56 FGFR3 NRAS
20
Show member pathways
11.52 FGFR3 NRAS
21 11.4 FGFR3 NRAS
22 11.24 FGFR3 NRAS
23 11.02 FGFR3 NRAS
24 10.87 FGFR3 NRAS
25 10.77 FGFR3 NRAS
26 10.25 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 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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