MCID: EPD037
MIFTS: 43

Epidermal Nevus malady

Eye diseases, Skin diseases, Cancer diseases categories

Summaries for Epidermal Nevus

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Sources:
21Genetics Home Reference, 63Wikipedia, 32MalaCards
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Genetics Home Reference:21 An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of skin cells. Epidermal nevi are typically seen at birth or develop in early childhood. They can be flat, tan patches of skin or raised, velvety patches. As the affected individual ages, the nevus can become thicker and darker and develop a wart-like (verrucous) appearance. Often, epidermal nevi follow a pattern on the skin known as the lines of Blaschko. The lines of Blaschko, which are invisible on skin, are thought to follow the paths along which cells migrate as the skin develops before birth.

MalaCards: Epidermal Nevus, also known as epidermal nevus syndrome, is related to rickets and squamous cell carcinoma. An important gene associated with Epidermal Nevus is KRT10 (keratin 10), and among its related pathways are Signaling by FGFR1 mutants and FGFR2c ligand binding and activation. The compounds tazarotene and isotretinoin have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related mouse phenotypes are pigmentation and integument.

Wikipedia:63 Epidermal nevus syndrome (also known as \"Feuerstein and Mims syndrome,\" and \"Solomon\'s syndrome\")... more...

Aliases & Classifications for Epidermal Nevus

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Sources:
21Genetics Home Reference, 44Novoseek, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases
Anatomical: Eye diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
epidermal nevus syndrome:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

epidermal nevus 21
epidermal nevus syndrome 44 48
linear sebaceous nevus sequence 60
epidermal hamartoma syndrome 48
epidermal naevus 21
nevus, epidermal 60


External Ids:

SNOMED-CT via Orphanet57 239112008, 239107007, 25201003
MESH via Orphanet35 C536114, D054000
ICD10 via Orphanet26 Q85.8
UMLS via Orphanet61 C0334082

Related Diseases for Epidermal Nevus

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17GeneCards, 18GeneDecks
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Diseases related to Epidermal Nevus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1rickets30.8PHEX, FGF23
2squamous cell carcinoma30.6PTEN, KRT10, KRT1, FGFR3, CREBBP
3epidermolytic hyperkeratosis30.4KRT1, KRT10
4keratoacanthoma30.2KRT10
5cholesteatoma30.0KRT10
6epidermolytic acanthoma30.0KRT1
7keratosis30.0KRT10, KRT1
8calcinosis30.0FGF23
9congenital ichthyosiform erythroderma30.0NSDHL, KRT1, KRT10
10hypophosphatemia30.0FGF23, PHEX
11inflammatory linear verrucous epidermal nevus10.6
12psoriasis10.5
13acanthosis nigricans10.4
14linear nevus sebaceous syndrome10.3
15sfm syndrome, somatic mosaic10.3
16cerebritis10.3
17verrucous carcinoma10.3
18lipoma10.3
19rhabdomyosarcoma10.3
20neuronitis10.2
21acanthoma10.2
22basal cell carcinoma10.2
23hemangioma10.2
24image syndrome10.2
25clear cell acanthoma10.2
26arteriovenous malformation10.2
27blepharophimosis10.2
28epilepsy syndrome10.2
29gingivitis10.2
30transitional cell carcinoma10.2
31becker's nevus10.2
32epidermal nevus vitamin d resistant rickets10.2
33epidermal nevus, somatic10.2
34segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus10.2
35burn scar10.0
36burns10.0
37right bundle branch block10.0
38proteus syndrome10.0
39alopecia10.0
40neurofibromatosis10.0
41chondroblastoma10.0
42ichthyosis vulgaris10.0
43malignant conjunctiva melanoma10.0
44mccune albright syndrome10.0
45rubinstein-taybi syndrome10.0
46choroiditis10.0
47ainhum10.0
48vertebral artery occlusion10.0
49coats disease10.0
50focal dermal hypoplasia10.0

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



Diseases related to epidermal nevus

Clinical Features for Epidermal Nevus

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Drugs & Therapeutics for Epidermal Nevus

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Epidermal Nevus

Genetic Tests for Epidermal Nevus

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Anatomical Context for Epidermal Nevus

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Sources:
32MalaCards
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MalaCards organs/tissues related to Epidermal Nevus:

32
Skin, Eye

Animal Models for Epidermal Nevus or affiliated genes

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Sources:
36MGI
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Publications for Epidermal Nevus

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Genetic Variations for Epidermal Nevus

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Expression for genes affiliated with Epidermal Nevus

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epidermal Nevus

Search GEO for disease gene expression data for Epidermal Nevus.

Pathways for genes affiliated with Epidermal Nevus

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Sources:
53Reactome, 29KEGG, 51QIAGEN, 37NCBI BioSystems Database
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Pathways related to Epidermal Nevus according to GeneCards/GeneDecks:

(show all 27)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.7FGF23, FGFR3
2
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9.7FGFR3, FGF23
39.3IKBKG, CD8A
4
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9.3IKBKG, FGF23
5
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9.1PTEN, FGF23, FGFR3
68.9CREBBP, FGFR3, PTEN
7
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8.9IKBKG, FGF23, FGFR3
8
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8.7PTEN, IKBKG, CD8A
9
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8.7CD8A, IKBKG, PTEN
10
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8.5CREBBP, FGFR3, FGF23, PTEN
118.5PTEN, FGF23, FGFR3, CREBBP
12
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8.5PTEN, FGF23, FGFR3, CREBBP
13
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8.5IKBKG, PTEN, CREBBP
14
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8.5CREBBP, IKBKG, PTEN
15
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8.3CREBBP, FGFR3, FGF23, IKBKG
16
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8.3IKBKG, FGF23, FGFR3, CREBBP
17
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8.3CREBBP, FGFR3, FGF23, IKBKG
18
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8.2FGFR3, FGF23, IKBKG, PTEN
198.2FGFR3, FGF23, IKBKG, PTEN
20
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8.2FGFR3, FGF23, IKBKG, PTEN
21
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8.2PTEN, IKBKG, FGF23, FGFR3
22
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8.1CREBBP, FGFR3, IKBKG, PTEN
23
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8.0CREBBP, CD8A, FGFR3, FGF23, IKBKG
247.7CREBBP, FGFR3, FGF23, IKBKG, PTEN
25
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7.7CREBBP, FGFR3, FGF23, IKBKG, PTEN
26
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7.7CREBBP, FGFR3, FGF23, IKBKG, PTEN
27
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7.7PTEN, IKBKG, FGF23, FGFR3, CREBBP

Compounds for genes affiliated with Epidermal Nevus

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Sources:
44Novoseek, 11DrugBank, 59Tocris Bioscience, 24HMDB, 28IUPHAR, 49PharmGKB
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Compounds related to Epidermal Nevus according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1tazarotene44 1111.0KRT10, KRT1
2isotretinoin44 1110.9KRT10, KRT1
3phosphorus449.6FGF23, PHEX
41,25 dihydroxy vitamin d3449.6PHEX, FGF23, KRT10
5hematoxylin449.5KRT1, KRT10, PTEN
6steroid449.4KRT10, KRT1, CREBBP
7phenylalanine449.4FGFR3, FGF23, KRT1
8retinoid449.3CREBBP, KRT1, KRT10
9bicalutamide44 59 1111.2PTEN, CREBBP
10paraffin449.0PTEN, KRT10, KRT1, FGFR3
11calcitriol44 59 11 2412.0PTEN, KRT10, FGF23, PHEX
12progesterone44 59 28 11 2412.9PTEN, KRT10, KRT1, CREBBP
13proline448.7PHEX, CREBBP, FGF23, KRT1, KRT10
14vitamin d448.5PHEX, CREBBP, FGF23, KRT10, PTEN
15threonine448.5CREBBP, FGFR3, KRT1, KRT10, PTEN
16leucine448.4PHEX, IKBKG, KRT1, PTEN
17lipid448.0NSDHL, FGFR3, IKBKG, KRT1, PTEN
18zinc44 248.9KRT1, IKBKG, CREBBP, PHEX
19arginine447.4PTEN, CREBBP, FGFR3, FGF23, IKBKG, KRT1
20serine447.3CREBBP, FGFR3, FGF23, IKBKG, KRT1, KRT10
21tyrosine447.1CREBBP, CD8A, FGFR3, FGF23, IKBKG, KRT1
22calcium44 49 11 249.8PHEX, CREBBP, FGFR3, FGF23, IKBKG, KRT1

GO Terms for genes affiliated with Epidermal Nevus

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Sources:
16Gene Ontology
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Cellular components related to Epidermal Nevus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1internal side of plasma membraneGO:0098989.4PTEN, FGFR3

Biological processes related to Epidermal Nevus according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.8FGF23, FGFR3
2negative regulation of epithelial cell proliferationGO:0506809.4PTEN, FGFR3
3phosphatidylinositol-mediated signalingGO:0480159.1FGFR3, FGF23, PTEN
4fibroblast growth factor receptor signaling pathwayGO:0085439.1PTEN, FGF23, FGFR3
5epidermal growth factor receptor signaling pathwayGO:0071739.0FGFR3, FGF23, PTEN
6neurotrophin TRK receptor signaling pathwayGO:0480118.8PTEN, FGF23, FGFR3
7Fc-epsilon receptor signaling pathwayGO:0380958.4PTEN, IKBKG, FGF23, FGFR3
8innate immune responseGO:0450877.9CREBBP, FGFR3, FGF23, IKBKG, PTEN

Products for genes affiliated with Epidermal Nevus

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  • Antibodies
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  • Antibodies

Sources for Epidermal Nevus

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet