MCID: EPD053
MIFTS: 51

Epidermal Nevus, Somatic malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermal Nevus, Somatic

About this section
Sources:
12diseasecard, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Epidermal Nevus, Somatic:

Name: Epidermal Nevus, Somatic 51 12
Woolly Hair Nevus 53 26 67
Epidermal Nevus Syndrome 26 49
Nevus, Epidermal 51 67
Epidermal Nevus 47 25
Nevus Sebaceous or Woolly Hair Nevus, Somatic 51
Keratinocytic Non-Epidermolytic Nevus 69
Organoid Nevus Phakomatosis 67
 
Nevus, Epidermal, Somatic 51
Melanocytic Nevus of Skin 67
Melanocytic Nevus 67
Wooly Hair Nevus 53
Epidermal Naevus 25
Pigmented Moles 69
Nevus Sebaceous 67
Knen 69

Characteristics:

Orphanet epidemiological data:

53
woolly hair nevus:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal

HPO:

63
epidermal nevus, somatic:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

OMIM51 162900
Orphanet53 ORPHA79414
UMLS via Orphanet68 C0343114
ICD10 via Orphanet30 D23.4

Summaries for Epidermal Nevus, Somatic

About this section
OMIM:51 Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as... (162900) more...

MalaCards based summary: Epidermal Nevus, Somatic, also known as woolly hair nevus, is related to melanocytic nevus syndrome, congenital, somatic and schimmelpenning-feuerstein-mims syndrome, somatic mosaic, and has symptoms including melanocytic nevus, numerous nevi and leser-trélat sign. An important gene associated with Epidermal Nevus, Somatic is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Thyroid cancer and CD209 (DC-SIGN) signaling. Affiliated tissues include skin, brain and bone, and related mouse phenotypes are craniofacial and digestive/alimentary.

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.

NIH Rare Diseases:47 An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of skin cells. The nevi 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; in these cases the affected people 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: 5/27/2016

UniProtKB/Swiss-Prot:69 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.

Related Diseases for Epidermal Nevus, Somatic

About this section

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

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1melanocytic nevus syndrome, congenital, somatic31.9HRAS, NRAS
2schimmelpenning-feuerstein-mims syndrome, somatic mosaic30.8FGFR3, HRAS, KRAS, NRAS
3segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome12.0
4becker nevus syndrome11.0
5demyelinating polyneuropathy10.3HRAS, NRAS
6sublingual gland adenoid cystic carcinoma10.3HRAS, NRAS
7coloboma of macula and skeletal anomalies10.3HRAS, NRAS
8psammomatous meningioma10.3HRAS, NRAS
9chronic inflammatory demyelinating polyradiculoneuropathy10.3HRAS, NRAS
10neonatal stroke10.3HRAS, NRAS
11vulvar sarcoma10.3HRAS, NRAS
12spongiotic dermatitis10.2FGFR3, PIK3CA
13toenail dystrophy, isolated10.2FGF23, FGFR3
14combat disorder10.2FGFR3, PIK3CA
15esophagus leiomyosarcoma10.2HRAS, NRAS
16spindle cell hemangioma10.2HRAS, NRAS
17rickets10.2
18burning mouth syndrome10.2NRAS, PIK3CA
19thanatophoric dysplasia, type ii10.1FGF23, FGFR3
20clove syndrome, somatic10.1FGFR3, PIK3CA
21eversion of lacrimal punctum10.1HRAS, PIK3CA
22heavy chain disease10.1HRAS, NRAS
23tic disorder10.1HRAS, PIK3CA
24pterygium colli mental retardation digital anomalies10.0KRAS, NRAS
25brachydactyly, type e210.0KRAS, NRAS
26rad51c-related fanconi anemia10.0KRAS, NRAS
27hypophosphatemic rickets10.0
28hemihypertrophy10.0
29hemimegalencephaly10.0
30vagina sarcoma10.0HRAS, KRAS
31glomerulosclerosis10.0HRAS, KRAS
32gonococcal spondylitis10.0HRAS, KRAS
33myxosarcoma10.0HRAS, KRAS
34seminal vesicle chronic gonorrhea9.9HRAS, KRAS
35lipoma9.9
36neurotic disorder9.9FGFR3, HRAS, NRAS
37ureter adenocarcinoma9.9HRAS, KRAS
38spindle epithelial tumor with thymus-like differentiation tumor9.9HRAS, KRAS
39alopecia9.9
40central precocious puberty9.9
41uterine ligament serous adenocarcinoma9.9HRAS, KRAS
42appendix mucinous cystadenocarcinoma9.9HRAS, KRAS
43tabes dorsalis9.9HRAS, KRAS
44acanthoma9.9HRAS, KRAS
45migraine with aura9.9HRAS, KRAS
46ovarian serous adenofibroma9.9HRAS, KRAS
47advanced sleep phase syndrome9.9HRAS, KRAS
48papilloma9.9HRAS, KRAS
49rete testis neoplasm9.9HRAS, KRAS
50vibratory urticaria9.9HRAS, KRAS

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



Diseases related to epidermal nevus, somatic

Symptoms for Epidermal Nevus, Somatic

About this section

Symptoms by clinical synopsis from OMIM:

162900

Clinical features from OMIM:

162900

Human phenotypes related to Epidermal Nevus, Somatic:

 63
id Description HPO Frequency HPO Source Accession
1 melanocytic nevus63 HP:0000995
2 numerous nevi63 HP:0001054

UMLS symptoms related to Epidermal Nevus, Somatic:


leser-trélat sign, seizures

Drugs & Therapeutics for Epidermal Nevus, Somatic

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Epidermal Nevus, Somatic

Genetic Tests for Epidermal Nevus, Somatic

About this section

Genetic tests related to Epidermal Nevus, Somatic:

id Genetic test Affiliating Genes
1 Epidermal Nevus26
2 Epidermal Nevus Syndrome26
3 Nevus, Woolly Hair26

Anatomical Context for Epidermal Nevus, Somatic

About this section

MalaCards organs/tissues related to Epidermal Nevus, Somatic:

35
Skin, Brain, Bone, Eye

Animal Models for Epidermal Nevus, Somatic or affiliated genes

About this section

MGI Mouse Phenotypes related to Epidermal Nevus, Somatic:

40 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1FGFR3, HRAS, KRAS, NRAS
2MP:00053819.1FGF23, FGFR3, KRAS, NRAS
3MP:00053719.1FGF23, FGFR3, KRAS, NRAS
4MP:00053679.0FGF23, FGFR3, HRAS, KRAS
5MP:00053888.9FGF23, FGFR3, HRAS, KRAS
6MP:00020068.4FGFR3, HRAS, KRAS, NRAS, PIK3CA
7MP:00030128.4FGFR3, HRAS, KRAS, NRAS, PIK3CA
8MP:00053858.4FGF23, HRAS, KRAS, NRAS, PIK3CA
9MP:00053798.4FGF23, HRAS, KRAS, NRAS, PIK3CA
10MP:00053788.0FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
11MP:00053768.0FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
12MP:00107718.0FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
13MP:00107687.9FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
14MP:00053907.6FGF23, FGFR3, HRAS, KRAS, PIK3CA

Publications for Epidermal Nevus, Somatic

About this section

Variations for Epidermal Nevus, Somatic

About this section

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

69
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg248CysVAR_004148rs121913482
2FGFR3p.Gly370CysVAR_004151rs121913479
3FGFR3p.Gly380ArgVAR_004155rs28931614
4NRASp.Gln61ArgVAR_006847rs11554290
5NRASp.Gly12AspVAR_071129rs121913237
6NRASp.Pro34LeuVAR_071130rs397514553

Clinvar genetic disease variations for Epidermal Nevus, Somatic:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_004985.4(KRAS): c.35G> A (p.Gly12Asp)SNVPathogenicrs121913529GRCh37Chr 12, 25398284: 25398284
2KRASNM_004985.4(KRAS): c.35G> T (p.Gly12Val)SNVPathogenicrs121913529GRCh37Chr 12, 25398284: 25398284
3HRASNM_005343.3(HRAS): c.35G> T (p.Gly12Val)SNVPathogenicrs104894230GRCh37Chr 11, 534288: 534288
4HRASNM_005343.3(HRAS): c.34G> A (p.Gly12Ser)SNVPathogenicrs104894229GRCh37Chr 11, 534289: 534289
5HRASNM_005343.3(HRAS): c.35G> A (p.Gly12Asp)SNVPathogenicrs104894230GRCh37Chr 11, 534288: 534288
6HRASNM_005343.3(HRAS): c.34G> T (p.Gly12Cys)SNVPathogenicrs104894229GRCh37Chr 11, 534289: 534289
7PIK3CANM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly)SNVPathogenicrs121913274GRCh37Chr 3, 178936092: 178936092
8NRASNM_002524.4(NRAS): c.182A> G (p.Gln61Arg)SNVPathogenicrs11554290GRCh37Chr 1, 115256529: 115256529
9FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)SNVPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
10FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)SNV, HaplotypePathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
11FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)SNVPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
12HRASNM_005343.3(HRAS): c.37G> C (p.Gly13Arg)SNVPathogenicrs104894228GRCh37Chr 11, 534286: 534286
13NRASNM_002524.4(NRAS): c.101C> T (p.Pro34Leu)SNVPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681
14NRASNM_002524.4(NRAS): c.35G> A (p.Gly12Asp)SNVPathogenicrs121913237GRCh37Chr 1, 115258747: 115258747

Expression for genes affiliated with Epidermal Nevus, Somatic

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

Pathways for genes affiliated with Epidermal Nevus, Somatic

About this section

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

(show all 46)
idSuper pathwaysScoreTop Affiliating Genes
18.7HRAS, KRAS, NRAS
28.7HRAS, KRAS, NRAS
38.7HRAS, KRAS, NRAS
4
Show member pathways
8.7HRAS, KRAS, NRAS
58.7HRAS, KRAS, NRAS
6
Show member pathways
8.7HRAS, KRAS, NRAS
78.7HRAS, KRAS, NRAS
88.3FGFR3, HRAS, KRAS, NRAS
98.3FGFR3, HRAS, KRAS, NRAS
10
Show member pathways
8.1HRAS, KRAS, NRAS, PIK3CA
11
Show member pathways
8.1HRAS, KRAS, NRAS, PIK3CA
12
Show member pathways
8.1HRAS, KRAS, NRAS, PIK3CA
13
Show member pathways
8.1HRAS, KRAS, NRAS, PIK3CA
148.1HRAS, KRAS, NRAS, PIK3CA
15
Show member pathways
8.1HRAS, KRAS, NRAS, PIK3CA
16
Show member pathways
8.1HRAS, KRAS, NRAS, PIK3CA
17
Show member pathways
8.1HRAS, KRAS, NRAS, PIK3CA
188.1HRAS, KRAS, NRAS, PIK3CA
198.1HRAS, KRAS, NRAS, PIK3CA
208.1HRAS, KRAS, NRAS, PIK3CA
21
Show member pathways
8.1HRAS, KRAS, NRAS, PIK3CA
22
Show member pathways
8.1HRAS, KRAS, NRAS, PIK3CA
23
Show member pathways
8.1HRAS, KRAS, NRAS, PIK3CA
248.1HRAS, KRAS, NRAS, PIK3CA
258.1HRAS, KRAS, NRAS, PIK3CA
268.1HRAS, KRAS, NRAS, PIK3CA
27
Show member pathways
8.1HRAS, KRAS, NRAS, PIK3CA
28
Show member pathways
8.1HRAS, KRAS, NRAS, PIK3CA
298.1HRAS, KRAS, NRAS, PIK3CA
307.7FGF23, FGFR3, HRAS, KRAS, NRAS
317.7FGF23, FGFR3, HRAS, KRAS, NRAS
327.6FGFR3, HRAS, KRAS, NRAS, PIK3CA
337.6FGFR3, HRAS, KRAS, NRAS, PIK3CA
34
Show member pathways
7.6FGFR3, HRAS, KRAS, NRAS, PIK3CA
35
Show member pathways
7.6FGFR3, HRAS, KRAS, NRAS, PIK3CA
367.6FGFR3, HRAS, KRAS, NRAS, PIK3CA
37
Show member pathways
7.5FGF23, HRAS, KRAS, NRAS, PIK3CA
38
Show member pathways
7.5FGF23, HRAS, KRAS, NRAS, PIK3CA
397.1FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
40
Show member pathways
7.1FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
41
Show member pathways
7.1FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
42
Show member pathways
7.1FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
43
Show member pathways
7.1FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
44
Show member pathways
7.1FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
457.1FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
46
Show member pathways
7.1FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA

GO Terms for genes affiliated with Epidermal Nevus, Somatic

About this section

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.5FGF23, FGFR3, PIK3CA
2positive regulation of MAP kinase activityGO:00434069.5HRAS, KRAS
3phosphatidylinositol phosphorylationGO:00468549.4FGF23, FGFR3, PIK3CA
4regulation of phosphatidylinositol 3-kinase signalingGO:00140669.4FGF23, FGFR3, PIK3CA
5phosphatidylinositol-mediated signalingGO:00480159.4FGF23, FGFR3, PIK3CA
6social behaviorGO:00351769.1HRAS, KRAS
7stimulatory C-type lectin receptor signaling pathwayGO:00022239.1HRAS, KRAS, NRAS
8regulation of long-term neuronal synaptic plasticityGO:00481699.0HRAS, KRAS
9Ras protein signal transductionGO:00072658.9HRAS, KRAS, NRAS
10positive regulation of ERK1 and ERK2 cascadeGO:00703748.7FGF23, FGFR3, HRAS
11axon guidanceGO:00074118.7HRAS, KRAS, NRAS
12negative regulation of neuron apoptotic processGO:00435248.7HRAS, KRAS, PIK3CA
13Fc-epsilon receptor signaling pathwayGO:00380958.5HRAS, KRAS, NRAS, PIK3CA
14ERBB2 signaling pathwayGO:00381288.5HRAS, KRAS, NRAS, PIK3CA
15epidermal growth factor receptor signaling pathwayGO:00071738.4HRAS, KRAS, NRAS, PIK3CA
16leukocyte migrationGO:00509008.4HRAS, KRAS, NRAS, PIK3CA
17MAPK cascadeGO:00001658.0FGF23, FGFR3, HRAS, KRAS, NRAS

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

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:00163039.3FGF23, FGFR3, PIK3CA
2phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.2FGF23, FGFR3, PIK3CA
3GTP bindingGO:00055258.7HRAS, KRAS, NRAS

Sources for Epidermal Nevus, Somatic

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet