MCID: EPD082
MIFTS: 21

Epidermolytic Nevus

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Epidermolytic Nevus

MalaCards integrated aliases for Epidermolytic Nevus:

Name: Epidermolytic Nevus 58
Epidermolytic Epidermal Nevus 58 70
Epidermal Nevus with Epidermolytic Hyperkeratosis 58
Epidermolytic Verrucous Epidermal Nevus 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Orphanet 58 ORPHA497737
UMLS 70 C1302848

Summaries for Epidermolytic Nevus

MalaCards based summary : Epidermolytic Nevus, also known as epidermolytic epidermal nevus, is related to nevus, epidermal and palmoplantar keratosis. An important gene associated with Epidermolytic Nevus is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Developmental Biology and Negative regulation of FGFR1 signaling. Affiliated tissues include bone marrow and bone, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Epidermolytic Nevus

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.1 FGFR3 NRAS
2 Decreased viability GR00221-A-2 9.1 FGFR3
3 Decreased viability GR00221-A-3 9.1 FGFR3 NRAS
4 Decreased viability GR00249-S 9.1 FGFR3

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:

40
Bone Marrow, Bone

Publications for Epidermolytic Nevus

Articles related to Epidermolytic Nevus:

# Title Authors PMID Year
1
Bilateral Systematised Epidermolytic Epidermal Nevus: A case report. 61
33777434 2021
2
Epidermolytic epidermal nevus caused by a somatic mutation in KRT2. 61
33555633 2021
3
Linear Comedonal Epidermolytic Nevus: A Rare Entity. 61
33156020 2020
4
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. 61
33081034 2020
5
Epidermolytic Nevus: An Instance of Mosaic Epidermolytic Ichthyosis. 61
32478000 2020
6
A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline. 61
28532675 2017
7
Localized linear epidermolytic epidermal nevus of male genitalia with a recurrent keratin 10 mutation, p.Arg156His. 61
24001792 2013
8
Epidermal nevus. 61
21163163 2010
9
[Bilateral non-congenital acanthokeratolytic epidermal nevus]. 61
2807918 1989
10
Linear psoriasis and systematized epidermolytic nevus. 61
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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 NRAS KRT2 FGFR3
2
Show member pathways
12.08 NRAS FGFR3
3 12.02 NRAS FGFR3
4
Show member pathways
11.98 NRAS FGFR3
5
Show member pathways
11.96 NRAS FGFR3
6
Show member pathways
11.9 NRAS FGFR3
7
Show member pathways
11.82 NRAS FGFR3
8
Show member pathways
11.78 NRAS FGFR3
9
Show member pathways
11.72 NRAS FGFR3
10
Show member pathways
11.66 NRAS FGFR3
11
Show member pathways
11.52 NRAS FGFR3
12 11.41 NRAS FGFR3
13 11.24 NRAS FGFR3
14 11.02 NRAS FGFR3
15 10.8 NRAS FGFR3
16 10.26 NRAS FGFR3

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 NRAS FGFR3

Sources for Epidermolytic Nevus

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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