MCID: EPD053
MIFTS: 51

Epidermal Nevus, Somatic malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Epidermal Nevus, Somatic

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Sources:
50OMIM, 12diseasecard, 66UMLS, 46NIH Rare Diseases, 24Genetics Home Reference, 25GTR, 48Novoseek, 52Orphanet, 68UniProtKB/Swiss-Prot, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Epidermal Nevus, Somatic:

Name: Epidermal Nevus, Somatic 50 12
Epidermal Nevus Syndrome 25 48
Woolly Hair Nevus 52 25
Nevus, Epidermal 50 66
Epidermal Nevus 46 24
Nevus Sebaceous or Woolly Hair Nevus, Somatic 50
 
Keratinocytic Non-Epidermolytic Nevus 68
Nevus, Epidermal, Somatic 50
Wooly Hair Nevus 52
Epidermal Naevus 24
Pigmented Moles 68
Knen 68

Characteristics:

Orphanet epidemiological data:

52
woolly hair nevus:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal

HPO:

62
epidermal nevus, somatic:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

OMIM50 162900
Orphanet52 ORPHA79414
UMLS via Orphanet67 C0343114
ICD10 via Orphanet29 D23.4

Summaries for Epidermal Nevus, Somatic

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OMIM:50 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 epidermal nevus syndrome, is related to melanocytic nevus syndrome, congenital, somatic and schimmelpenning-feuerstein-mims syndrome, somatic mosaic, and has symptoms including melanocytic nevus and numerous nevi. An important gene associated with Epidermal Nevus, Somatic is NRAS (Neuroblastoma RAS Viral Oncogene Homolog), and among its related pathways are Thyroid cancer and p38MAPK events. Affiliated tissues include skin, brain and bone, and related mouse phenotypes are neoplasm and no phenotypic analysis.

Genetics Home Reference:24 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:46 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:68 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

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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, somatic32.3HRAS, NRAS
2schimmelpenning-feuerstein-mims syndrome, somatic mosaic31.0FGFR3, HRAS, KRAS, NRAS
3segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome12.1
4becker nevus syndrome11.1
5spongiotic dermatitis10.5FGFR3, PIK3CA
6burning mouth syndrome10.4NRAS, PIK3CA
7combat disorder10.4FGFR3, PIK3CA
8demyelinating polyneuropathy10.4HRAS, NRAS
9sublingual gland adenoid cystic carcinoma10.4HRAS, NRAS
10coloboma of macula and skeletal anomalies10.4HRAS, NRAS
11psammomatous meningioma10.4HRAS, NRAS
12chronic inflammatory demyelinating polyradiculoneuropathy10.4HRAS, NRAS
13neonatal stroke10.4HRAS, NRAS
14vulvar sarcoma10.4HRAS, NRAS
15melanoma10.3HRAS, NRAS
16eversion of lacrimal punctum10.3HRAS, PIK3CA
17tic disorder10.3HRAS, PIK3CA
18esophagus leiomyosarcoma10.3HRAS, NRAS
19spindle cell hemangioma10.3HRAS, NRAS
20megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.3MUT, PIK3CA
21cowden syndrome 510.3MUT, PIK3CA
22spermatogenic failure 610.2MUT, PIK3CA
23toenail dystrophy, isolated10.2FGF23, FGFR3
24heavy chain disease10.2HRAS, NRAS
25pterygium colli mental retardation digital anomalies10.1KRAS, NRAS
26brachydactyly, type e210.1KRAS, NRAS
27rad51c-related fanconi anemia10.1KRAS, NRAS
28thanatophoric dysplasia, type ii10.1FGF23, FGFR3
29alopecia10.1
30heterochromia iridis10.1
31precocious puberty10.1
32phacomatosis pigmentokeratotica10.1
33central precocious puberty10.1
34malignant hyperthermia susceptibility type 210.1KRAS, PIK3CA
35neurotic disorder10.0FGFR3, HRAS, NRAS
36vagina sarcoma10.0HRAS, KRAS
37glomerulosclerosis10.0HRAS, KRAS
38frontotemporal dementia and/or amyotrophic lateral sclerosis 410.0HRAS, NRAS, PIK3CA
39gonococcal spondylitis10.0HRAS, KRAS
40penis carcinoma in situ10.0FGFR3, HRAS, PIK3CA
41myxosarcoma10.0HRAS, KRAS
42mosaic trisomy 2210.0
43seminal vesicle chronic gonorrhea10.0HRAS, KRAS
44ureter adenocarcinoma9.9HRAS, KRAS
45spindle epithelial tumor with thymus-like differentiation tumor9.9HRAS, KRAS
46uterine ligament serous adenocarcinoma9.9HRAS, KRAS
47appendix mucinous cystadenocarcinoma9.9HRAS, KRAS
48tabes dorsalis9.9HRAS, KRAS
49acanthoma9.9HRAS, KRAS
50migraine with aura9.9HRAS, KRAS

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



Diseases related to epidermal nevus, somatic

Symptoms for Epidermal Nevus, Somatic

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Symptoms by clinical synopsis from OMIM:

162900

Clinical features from OMIM:

162900

HPO human phenotypes related to Epidermal Nevus, Somatic:

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

Drugs & Therapeutics for Epidermal Nevus, Somatic

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Epidermal Nevus, Somatic

Genetic Tests for Epidermal Nevus, Somatic

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Genetic tests related to Epidermal Nevus, Somatic:

id Genetic test Affiliating Genes
1 Epidermal Nevus25
2 Epidermal Nevus Syndrome25
3 Nevus, Woolly Hair25

Anatomical Context for Epidermal Nevus, Somatic

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MalaCards organs/tissues related to Epidermal Nevus, Somatic:

34
Skin, Brain, Bone, Eye

Animal Models for Epidermal Nevus, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Epidermal Nevus, Somatic:

39 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.3FGFR3, HRAS, KRAS, NRAS, PIK3CA
2MP:00030128.3FGFR3, HRAS, KRAS, NRAS, PIK3CA
3MP:00053718.0FGF23, FGFR3, KRAS, NRAS
4MP:00053818.0FGF23, FGFR3, KRAS, MUT, NRAS
5MP:00053888.0FGF23, FGFR3, HRAS, KRAS, MUT
6MP:00107717.9FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
7MP:00053907.7FGF23, FGFR3, HRAS, KRAS, PIK3CA
8MP:00053877.7FGF23, FGFR3, KRAS, MUT, NRAS, PIK3CA
9MP:00053677.7FGF23, FGFR3, HRAS, KRAS, MUT
10MP:00053857.3FGF23, HRAS, KRAS, MUT, NRAS, PIK3CA
11MP:00053797.3FGF23, HRAS, KRAS, MUT, NRAS, PIK3CA
12MP:00053867.3FGFR3, HRAS, KRAS, MUT, NRAS, PIK3CA
13MP:00107687.0FGF23, FGFR3, HRAS, KRAS, MUT, NRAS
14MP:00053786.8FGF23, FGFR3, HRAS, KRAS, MUT, NRAS
15MP:00053766.6FGF23, FGFR3, HRAS, KRAS, MUT, NRAS

Publications for Epidermal Nevus, Somatic

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Variations for Epidermal Nevus, Somatic

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

68
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 13)
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs121913529GRCh37Chr 12, 25398284: 25398284
2NM_005343.3(HRAS): c.35G> T (p.Gly12Val)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
3NM_005343.3(HRAS): c.34G> A (p.Gly12Ser)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
4NM_005343.3(HRAS): c.34G> T (p.Gly12Cys)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
5PIK3CANM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly)single nucleotide variantPathogenicrs121913274GRCh37Chr 3, 178936092: 178936092
6NRASNM_002524.4(NRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs11554290GRCh37Chr 1, 115256529: 115256529
7FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
8FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
9FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
10FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)single nucleotide variantPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
11NM_005343.3(HRAS): c.37G> C (p.Gly13Arg)single nucleotide variantPathogenicrs104894228GRCh37Chr 11, 534286: 534286
12NRASNM_002524.4(NRAS): c.101C> T (p.Pro34Leu)single nucleotide variantPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681
13NRASNM_002524.4(NRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenicrs121913237GRCh37Chr 1, 115258747: 115258747

Expression for genes affiliated with Epidermal Nevus, Somatic

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

Pathways for genes affiliated with Epidermal Nevus, Somatic

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

(show top 50)    (show all 112)
idSuper pathwaysScoreTop Affiliating Genes
18.8HRAS, KRAS, NRAS
28.8HRAS, KRAS, NRAS
38.8HRAS, KRAS, NRAS
48.8HRAS, KRAS, NRAS
5
Show member pathways
8.8HRAS, KRAS, NRAS
68.8HRAS, KRAS, NRAS
78.8HRAS, KRAS, NRAS
88.3FGFR3, HRAS, KRAS, NRAS
9
Show member pathways
8.3FGFR3, HRAS, KRAS, NRAS
108.3FGFR3, HRAS, KRAS, NRAS
11
Show member pathways
8.3HRAS, KRAS, NRAS, PIK3CA
12
Show member pathways
8.3HRAS, KRAS, NRAS, PIK3CA
13
Show member pathways
8.3HRAS, KRAS, NRAS, PIK3CA
14
Show member pathways
8.3HRAS, KRAS, NRAS, PIK3CA
15
Show member pathways
8.3HRAS, KRAS, NRAS, PIK3CA
16
Show member pathways
8.3HRAS, KRAS, NRAS, PIK3CA
178.3HRAS, KRAS, NRAS, PIK3CA
18
Show member pathways
8.3HRAS, KRAS, NRAS, PIK3CA
19
Show member pathways
8.3HRAS, KRAS, NRAS, PIK3CA
208.3HRAS, KRAS, NRAS, PIK3CA
218.3HRAS, KRAS, NRAS, PIK3CA
228.3HRAS, KRAS, NRAS, PIK3CA
23
Show member pathways
8.3HRAS, KRAS, NRAS, PIK3CA
24
Show member pathways
8.3HRAS, KRAS, NRAS, PIK3CA
25
Show member pathways
8.3HRAS, KRAS, NRAS, PIK3CA
268.3HRAS, KRAS, NRAS, PIK3CA
27
Show member pathways
8.3HRAS, KRAS, NRAS, PIK3CA
28
Show member pathways
8.3HRAS, KRAS, NRAS, PIK3CA
298.3HRAS, KRAS, NRAS, PIK3CA
308.3HRAS, KRAS, NRAS, PIK3CA
318.3HRAS, KRAS, NRAS, PIK3CA
327.9FGFR3, HRAS, KRAS, NRAS, PIK3CA
337.9FGFR3, HRAS, KRAS, NRAS, PIK3CA
34
Show member pathways
7.9FGFR3, HRAS, KRAS, NRAS, PIK3CA
35
Show member pathways
7.9FGFR3, HRAS, KRAS, NRAS, PIK3CA
367.9FGFR3, HRAS, KRAS, NRAS, PIK3CA
377.8FGF23, FGFR3, HRAS, KRAS, NRAS
387.8FGF23, FGFR3, HRAS, KRAS, NRAS
39
Show member pathways
7.8FGF23, HRAS, KRAS, NRAS, PIK3CA
40
Show member pathways
7.8FGF23, HRAS, KRAS, NRAS, PIK3CA
41
Show member pathways
7.4FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
427.4FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
43
Show member pathways
7.4FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
44
Show member pathways
7.4FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
45
Show member pathways
7.4FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
46
Show member pathways
7.4FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
47
Show member pathways
7.4FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
487.4FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
49
Show member pathways
7.4FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
50
Show member pathways
6.7FGF23, FGFR3, HRAS, KRAS, MUT, NRAS

GO Terms for genes affiliated with Epidermal Nevus, Somatic

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.7FGF23, FGFR3, PIK3CA
2phosphatidylinositol phosphorylationGO:00468549.6FGF23, FGFR3, PIK3CA
3regulation of phosphatidylinositol 3-kinase signalingGO:00140669.6FGF23, FGFR3, PIK3CA
4phosphatidylinositol-mediated signalingGO:00480159.5FGF23, FGFR3, PIK3CA
5regulation of long-term neuronal synaptic plasticityGO:00481699.2HRAS, KRAS
6stimulatory C-type lectin receptor signaling pathwayGO:00022239.2HRAS, KRAS, NRAS
7positive regulation of ERK1 and ERK2 cascadeGO:00703749.0FGF23, FGFR3, HRAS
8negative regulation of neuron apoptotic processGO:00435248.9HRAS, KRAS, PIK3CA
9Ras protein signal transductionGO:00072658.9HRAS, KRAS, NRAS
10social behaviorGO:00351768.8HRAS, KRAS
11axon guidanceGO:00074118.8HRAS, KRAS, NRAS
12Fc-epsilon receptor signaling pathwayGO:00380958.7HRAS, KRAS, NRAS, PIK3CA
13ERBB2 signaling pathwayGO:00381288.7HRAS, KRAS, NRAS, PIK3CA
14epidermal growth factor receptor signaling pathwayGO:00071738.7HRAS, KRAS, NRAS, PIK3CA
15leukocyte migrationGO:00509008.5HRAS, KRAS, NRAS, PIK3CA
16MAPK cascadeGO:00001658.2FGF23, 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:00163039.2FGF23, FGFR3, PIK3CA
2phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.1FGF23, FGFR3, PIK3CA

Sources for Epidermal Nevus, Somatic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet