MCID: EPD053
MIFTS: 48

Epidermal Nevus, Somatic

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermal Nevus, Somatic

MalaCards integrated aliases for Epidermal Nevus, Somatic:

Name: Epidermal Nevus, Somatic 54 13
Epidermal Nevus 50 25 29
Woolly Hair Nevus 56 69
Nevus Sebaceous or Woolly Hair Nevus, Somatic 54
Keratinocytic Non-Epidermolytic Nevus 71
Nevus, Epidermal, Somatic 54
Melanocytic Nevus of Skin 69
Nevus, Woolly Hair 29
Melanocytic Nevus 69
Epidermal Naevus 25
Wooly Hair Nevus 56
Nevus, Epidermal 69
Pigmented Moles 71
Knen 71

Characteristics:

Orphanet epidemiological data:

56
woolly hair nevus
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
somatic


HPO:

32
epidermal nevus, somatic:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 162900
Orphanet 56 ORPHA79414
UMLS via Orphanet 70 C0343114
ICD10 via Orphanet 34 D23.4

Summaries for Epidermal Nevus, Somatic

OMIM : 54
Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994). A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, 113800), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994). Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by Ramot and Zlotogorski, 2015). Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by Groesser et al., 2012). Also see giant pigmented hairy nevus (137550) and malignant melanoma (155600). (162900)

MalaCards based summary : Epidermal Nevus, Somatic, also known as epidermal nevus, is related to melanocytic nevus syndrome, congenital, somatic and schimmelpenning-feuerstein-mims syndrome, somatic mosaic, and has symptoms including numerous nevi and melanocytic nevus. An important gene associated with Epidermal Nevus, Somatic is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are HIV Life Cycle and TGF-Beta Pathway. Affiliated tissues include skin, bone and brain, and related phenotypes are Decreased viability and integument

NIH Rare Diseases : 50 an epidermal nevus is a noncancerous (benign) patch of skin caused by an overgrowth of skin cells. the nevi (plural form of nevus) are seen at birth or develop in early childhood. they can be flat, tan patches of skin, or raised, velvety patches and may 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”. sometimes, people with an epidermal nevus may have problems in other body systems, such as the brain, eyes, or bones; these people are said to have an epidermal nevus syndrome, which is a group of different disorders. mutations associated with an epidermal nevus are present only in the cells of the nevus, not in the normal skin cells surrounding it, and may involve the fgfr3, pik3ca or, hras genes. treatment is challenging and may include topical medication and surgery. last updated: 6/12/2017

UniProtKB/Swiss-Prot : 71 Keratinocytic non-epidermolytic nevus: Epidermal nevi of the common, non-organoid and non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood.

Genetics Home Reference : 25 An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of cells in the outermost layer of skin (epidermis). Epidermal nevi are typically seen at birth or develop in early childhood. Affected individuals have one or more nevi that vary in size.

Related Diseases for Epidermal Nevus, Somatic

Diseases related to Epidermal Nevus, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 131)
id Related Disease Score Top Affiliating Genes
1 melanocytic nevus syndrome, congenital, somatic 31.1 HRAS NRAS
2 schimmelpenning-feuerstein-mims syndrome, somatic mosaic 31.0 FGFR3 HRAS NRAS
3 inflammatory linear verrucous epidermal nevus 12.5
4 epidermal nevus vitamin d resistant rickets 12.0
5 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.0
6 becker nevus syndrome 11.1
7 woolly hair syndrome 11.1
8 nevus comedonicus, somatic 11.1
9 nevoid hypermelanosis, linear and whorled 10.9
10 klippel-trenaunay-weber syndrome 10.9
11 verruciform xanthoma of skin 10.9
12 mosaic trisomy 22 10.8
13 phototoxic dermatitis 10.2 FGFR3 PIK3CA
14 clove syndrome, somatic 10.2 FGFR3 PIK3CA
15 rickets 10.1
16 parovarian cyst 10.1 NRAS PIK3CA
17 psoriasis 10.1
18 squamous cell carcinoma 10.0
19 hemihypertrophy 10.0
20 breast leiomyoma 10.0 FGFR3 PIK3CA
21 uncombable hair syndrome 9.9
22 acanthosis nigricans 9.9
23 hypophosphatemic rickets 9.9
24 hemimegalencephaly 9.9
25 basal cell carcinoma 9.9
26 gastric papillary adenocarcinoma 9.9 HRAS PIK3CA
27 stenosis of lacrimal punctum 9.9 HRAS PIK3CA
28 chorioangioma 9.9 HRAS PIK3CA
29 precocious puberty 9.9
30 rhabdomyosarcoma 9.9
31 epidermolytic hyperkeratosis 9.9
32 cerebritis 9.9
33 breast adenoid cystic carcinoma 9.9 HRAS PIK3CA
34 chronic polyneuropathy 9.8 HRAS NRAS
35 fibrous meningioma 9.8 HRAS NRAS
36 sublingual gland adenoid cystic carcinoma 9.8 HRAS NRAS
37 coloboma of macula and skeletal anomalies 9.8 HRAS NRAS
38 keratoacanthoma 9.8
39 neuronitis 9.8
40 hemangioma 9.8
41 acanthoma 9.8
42 epilepsy 9.8
43 myxedema 9.8 HRAS PIK3CA
44 dental caries 9.8 HRAS PIK3CA
45 demyelinating polyneuropathy 9.8 HRAS NRAS
46 vulval paget's disease 9.8 HRAS NRAS
47 nasal cavity disease 9.8 HRAS PIK3CA
48 olfactory neural tumor 9.8 HRAS NRAS
49 nephrolithiasis 9.8 HRAS NRAS
50 trachea squamous cell carcinoma 9.7 HRAS PIK3CA

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



Diseases related to Epidermal Nevus, Somatic

Symptoms & Phenotypes for Epidermal Nevus, Somatic

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin:
multiple nevi
pigmented moles
woolly hair nevus (in some patients)
hyperpigmented patches of skin (in some patients)
raised, scaly, and/or hyperkeratotic areas of skin (in some patients)

Skin Nails & Hair- Hair:
patches of tightly curled scalp hair adjacent to straight hair (in some patients)


Clinical features from OMIM:

162900

Human phenotypes related to Epidermal Nevus, Somatic:

32
id Description HPO Frequency HPO Source Accession
1 numerous nevi 32 HP:0001054
2 melanocytic nevus 32 HP:0000995

GenomeRNAi Phenotypes related to Epidermal Nevus, Somatic according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.84 HRAS PIK3CA
2 Decreased viability GR00221-A-1 9.84 FGFR3 HRAS PIK3CA NRAS
3 Decreased viability GR00221-A-2 9.84 FGFR3 HRAS PIK3CA
4 Decreased viability GR00221-A-3 9.84 NRAS FGFR3 HRAS
5 Decreased viability GR00221-A-4 9.84 PIK3CA
6 Decreased cell migration GR00055-A-1 9.33 FGFR3 HRAS PIK3CA
7 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.13 FGFR3 HRAS NRAS

MGI Mouse Phenotypes related to Epidermal Nevus, Somatic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.46 FGFR3 HRAS NRAS PIK3CA
2 neoplasm MP:0002006 9.26 FGFR3 HRAS NRAS PIK3CA
3 no phenotypic analysis MP:0003012 8.92 FGFR3 HRAS NRAS PIK3CA

Drugs & Therapeutics for Epidermal Nevus, Somatic

Search Clinical Trials , NIH Clinical Center for Epidermal Nevus, Somatic

Genetic Tests for Epidermal Nevus, Somatic

Genetic tests related to Epidermal Nevus, Somatic:

id Genetic test Affiliating Genes
1 Epidermal Nevus 29
2 Nevus, Woolly Hair 29

Anatomical Context for Epidermal Nevus, Somatic

MalaCards organs/tissues related to Epidermal Nevus, Somatic:

39
Skin, Bone, Brain, Eye

Publications for Epidermal Nevus, Somatic

Variations for Epidermal Nevus, Somatic

UniProtKB/Swiss-Prot genetic disease variations for Epidermal Nevus, Somatic:

71
id Symbol AA change Variation ID SNP ID
1 FGFR3 p.Arg248Cys VAR_004148 rs121913482
2 FGFR3 p.Gly370Cys VAR_004151 rs121913479
3 FGFR3 p.Gly380Arg VAR_004155 rs28931614
4 NRAS p.Gln61Arg VAR_006847 rs11554290
5 NRAS p.Gly12Asp VAR_071129 rs121913237
6 NRAS p.Pro34Leu VAR_071130 rs397514553

ClinVar genetic disease variations for Epidermal Nevus, Somatic:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
2 HRAS NM_005343.3(HRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic/Likely pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
3 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
4 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
5 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
6 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic/Likely pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
7 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
8 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
9 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913479 GRCh37 Chromosome 4, 1806089: 1806089
10 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
11 NRAS NM_002524.4(NRAS): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs397514553 GRCh37 Chromosome 1, 115258681: 115258681
12 NRAS NM_002524.4(NRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913237 GRCh37 Chromosome 1, 115258747: 115258747

Expression for Epidermal Nevus, Somatic

Search GEO for disease gene expression data for Epidermal Nevus, Somatic.

Pathways for Epidermal Nevus, Somatic

Pathways related to Epidermal Nevus, Somatic according to GeneCards Suite gene sharing:

(show top 50) (show all 100)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 FGFR3 HRAS NRAS PIK3CA
2
Show member pathways
13.29 FGFR3 HRAS NRAS PIK3CA
3
Show member pathways
13.26 FGFR3 HRAS NRAS PIK3CA
4
Show member pathways
13.22 FGFR3 HRAS NRAS PIK3CA
5
Show member pathways
13.14 FGFR3 HRAS NRAS PIK3CA
6
Show member pathways
12.84 FGFR3 HRAS NRAS
7
Show member pathways
12.83 FGFR3 HRAS NRAS
8
Show member pathways
12.72 HRAS NRAS PIK3CA
9
Show member pathways
12.71 HRAS NRAS PIK3CA
10
Show member pathways
12.69 HRAS NRAS PIK3CA
11
Show member pathways
12.69 HRAS NRAS PIK3CA
12
Show member pathways
12.66 HRAS NRAS PIK3CA
13
Show member pathways
12.64 HRAS NRAS PIK3CA
14
Show member pathways
12.64 FGFR3 HRAS NRAS PIK3CA
15
Show member pathways
12.62 HRAS NRAS PIK3CA
16
Show member pathways
12.62 FGFR3 HRAS NRAS PIK3CA
17
Show member pathways
12.6 HRAS NRAS PIK3CA
18
Show member pathways
12.59 HRAS NRAS PIK3CA
19 12.55 FGFR3 HRAS NRAS
20
Show member pathways
12.5 FGFR3 HRAS NRAS PIK3CA
21
Show member pathways
12.49 FGFR3 HRAS NRAS PIK3CA
22 12.46 FGFR3 HRAS NRAS PIK3CA
23
Show member pathways
12.44 HRAS NRAS PIK3CA
24
Show member pathways
12.44 HRAS NRAS PIK3CA
25 12.42 FGFR3 HRAS NRAS PIK3CA
26
Show member pathways
12.38 HRAS NRAS PIK3CA
27
Show member pathways
12.38 HRAS NRAS PIK3CA
28 12.37 FGFR3 HRAS NRAS PIK3CA
29
Show member pathways
12.35 HRAS NRAS PIK3CA
30
Show member pathways
12.33 FGFR3 HRAS NRAS PIK3CA
31
Show member pathways
12.32 FGFR3 HRAS NRAS PIK3CA
32
Show member pathways
12.3 HRAS NRAS PIK3CA
33 12.29 HRAS NRAS PIK3CA
34
Show member pathways
12.27 HRAS NRAS PIK3CA
35
Show member pathways
12.25 HRAS NRAS PIK3CA
36 12.25 FGFR3 HRAS NRAS PIK3CA
37
Show member pathways
12.22 HRAS NRAS PIK3CA
38
Show member pathways
12.2 HRAS NRAS PIK3CA
39
Show member pathways
12.2 FGFR3 HRAS NRAS PIK3CA
40
Show member pathways
12.18 HRAS NRAS PIK3CA
41 12.17 HRAS NRAS PIK3CA
42 12.16 HRAS NRAS PIK3CA
43
Show member pathways
12.16 HRAS NRAS PIK3CA
44
Show member pathways
12.12 FGFR3 HRAS NRAS PIK3CA
45
Show member pathways
12.1 HRAS NRAS PIK3CA
46
Show member pathways
12.1 FGFR3 HRAS NRAS
47
Show member pathways
12.09 FGFR3 HRAS NRAS PIK3CA
48 12.08 HRAS NRAS PIK3CA
49
Show member pathways
12.06 HRAS NRAS PIK3CA
50
Show member pathways
12.04 HRAS NRAS PIK3CA

GO Terms for Epidermal Nevus, Somatic

Biological processes related to Epidermal Nevus, Somatic according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.54 FGFR3 HRAS NRAS
2 phosphatidylinositol-mediated signaling GO:0048015 9.51 FGFR3 PIK3CA
3 leukocyte migration GO:0050900 9.5 HRAS NRAS PIK3CA
4 phosphatidylinositol phosphorylation GO:0046854 9.49 FGFR3 PIK3CA
5 positive regulation of MAPK cascade GO:0043410 9.48 FGFR3 HRAS
6 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.46 FGFR3 PIK3CA
7 Ras protein signal transduction GO:0007265 9.43 HRAS NRAS
8 axon guidance GO:0007411 9.43 HRAS NRAS PIK3CA
9 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.4 FGFR3 PIK3CA
10 Fc-epsilon receptor signaling pathway GO:0038095 9.33 HRAS NRAS PIK3CA
11 epidermal growth factor receptor signaling pathway GO:0007173 9.13 HRAS NRAS PIK3CA
12 ERBB2 signaling pathway GO:0038128 8.8 HRAS NRAS PIK3CA

Molecular functions related to Epidermal Nevus, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.16 FGFR3 PIK3CA
2 1-phosphatidylinositol-3-kinase activity GO:0016303 8.96 FGFR3 PIK3CA
3 nucleotide binding GO:0000166 8.8 FGFR3 HRAS NRAS

Sources for Epidermal Nevus, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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