KNEN
MCID: EPD053
MIFTS: 53

Epidermal Nevus, Somatic (KNEN) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermal Nevus, Somatic

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Sources:
12diseasecard, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Epidermal Nevus, Somatic:

Name: Epidermal Nevus, Somatic 52 12
Woolly Hair Nevus 54 27 68
Epidermal Nevus Syndrome 27 50
Nevus, Epidermal 52 68
Epidermal Nevus 48 25
Nevus Sebaceous or Woolly Hair Nevus, Somatic 52
Keratinocytic Non-Epidermolytic Nevus 70
Organoid Nevus Phakomatosis 68
 
Nevus, Epidermal, Somatic 52
Melanocytic Nevus of Skin 68
Melanocytic Nevus 68
Wooly Hair Nevus 54
Epidermal Naevus 25
Pigmented Moles 70
Nevus Sebaceous 68
Knen 70

Characteristics:

Orphanet epidemiological data:

54
woolly hair nevus:
Inheritance: Not applicable; Age of onset: Infancy,Neonatal

HPO:

64
epidermal nevus, somatic:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 162900
Orphanet54 ORPHA79414
UMLS via Orphanet69 C0343114
ICD10 via Orphanet31 D23.4

Summaries for Epidermal Nevus, Somatic

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OMIM:52 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 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, and has symptoms including seizures, melanocytic nevus and numerous nevi. An important gene associated with Epidermal Nevus, Somatic is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are PDGFR-beta signaling pathway and G-protein signaling_H-RAS regulation pathway. Affiliated tissues include skin, brain and eye, and related mouse phenotypes are Increased cell migration and Decreased cell migration.

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:48 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:70 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 89)
idRelated DiseaseScoreTop Affiliating Genes
1melanocytic nevus syndrome, congenital, somatic30.3FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
2segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome12.0
3mosaic trisomy 2210.8
4pseudomonas stutzeri infections10.2KRAS, NRAS
5acute hemorrhagic encephalitis10.2HRAS, NRAS
6rdh12-related leber congenital amaurosis10.2KRAS, NRAS
7parotid gland adenoid cystic carcinoma10.2HRAS, NRAS
8tubulointerstitial nephritis with uveitis10.2HRAS, NRAS
9mental retardation, autosomal dominant 610.1KRAS, NRAS
10infertility10.1HRAS, NRAS
11vulval paget's disease10.1HRAS, NRAS
12folliculitis10.1FGFR3, PIK3CA
13malignant skin fibrous histiocytoma10.1HRAS, KRAS
14nephrolithiasis10.1HRAS, NRAS
15gallbladder pleomorphic giant cell adenocarcinoma10.1HRAS, NRAS
16adult epithelioid sarcoma10.1HRAS, NRAS
17chronic venous insufficiency10.1HRAS, KRAS
18severe pre-eclampsia10.1HRAS, KRAS
19acute inflammation of lacrimal passage10.1FGFR3, PIK3CA
20neurocutaneous melanosis, somatic10.1HRAS, NRAS
21bile duct disease10.1HRAS, KRAS
22postpoliomyelitis syndrome10.1HRAS, KRAS
23syndactyly-polydactyly-earlobe syndrome10.1HRAS, KRAS
24gonococcal seminal vesiculitis10.1HRAS, KRAS
25pelvic inflammatory disease10.1HRAS, KRAS
26splenic manifestation of prolymphocytic leukemia10.1NRAS, PIK3CA
27cervical serous adenocarcinoma10.1HRAS, KRAS
28breast mucinous cystadenocarcinoma10.1HRAS, KRAS
29striated muscle rhabdoid tumor10.1HRAS, KRAS
30papillary adenofibroma10.1HRAS, KRAS
31vaginal yolk sac tumor10.1HRAS, NRAS
32bilateral hypoactive labyrinth10.1HRAS, KRAS
33tabes dorsalis10.1HRAS, KRAS
34aicardi-goutieres syndrome10.1HRAS, KRAS
35megalencephaly-capillary malformation-polymicrogyria syndrome, somatic10.1FGFR3, PIK3CA
36urethral cancer10.1KRAS, PIK3CA
37arthus reaction10.1HRAS, KRAS
38adult syndrome10.1KRAS, PIK3CA
39hyperproinsulinemia10.1HRAS, KRAS
40stenosis of lacrimal punctum10.1HRAS, PIK3CA
41retroperitoneal leiomyosarcoma10.1HRAS, NRAS
42retina lymphoma10.1HRAS, KRAS
43plasmacytoma10.1HRAS, KRAS
44nelson syndrome10.1HRAS, NRAS
45nemaline myopathy 8, autosomal recessive10.1KRAS, PIK3CA
46wolffian duct adenoma10.0HRAS, KRAS
47ideomotor apraxia10.0HRAS, KRAS
48gastric cancer, somatic10.0KRAS, PIK3CA
49basophilic carcinoma10.0HRAS, KRAS
50retroperitoneal neuroblastoma10.0KRAS, 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

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Symptoms by clinical synopsis from OMIM:

162900

Clinical features from OMIM:

162900

Human phenotypes related to Epidermal Nevus, Somatic:

 64 (show all 26)
id Description HPO Frequency HPO Source Accession
1 melanocytic nevus64 HP:0000995
2 numerous nevi64 HP:0001054
3 polycystic kidney dysplasia64 HP:0000113
4 astigmatism64 HP:0000483
5 visual impairment64 HP:0000505
6 delayed speech and language development64 HP:0000750
7 osteopenia64 HP:0000938
8 hyperpigmentation of the skin64 HP:0000953
9 hypopigmentation of the skin64 HP:0001010
10 global developmental delay64 HP:0001263
11 areflexia64 HP:0001284
12 abnormal facial shape64 HP:0001999
13 spinal cord compression64 HP:0002176
14 rhabdomyosarcoma64 HP:0002859
15 thoracolumbar scoliosis64 HP:0002944
16 spinal canal stenosis64 HP:0003416
17 babinski sign64 HP:0003487
18 nevus64 HP:0003764
19 atrophy of the spinal cord64 HP:0006827
20 progressive spastic paraparesis64 HP:0007199
21 weakness of long finger extensor muscles64 HP:0009077
22 spinal cord tumor64 HP:0010302
23 lipoma64 HP:0012032
24 abnormality of brain morphology64 HP:0012443
25 pain64 HP:0012531
26 vitamin d deficiency64 HP:0100512

UMLS symptoms related to Epidermal Nevus, Somatic:


seizures

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00055-A-39.6HRAS, KRAS, PIK3CA
2GR00055-A-19.3FGFR3, HRAS, KRAS, PIK3CA
3GR00381-A-13.7FGFR3, HRAS, KRAS, NRAS, PIK3CA, FGFR3

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

41 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.4FGFR3, HRAS, KRAS, NRAS
2MP:00053719.1FGF23, FGFR3, KRAS, NRAS
3MP:00053678.9FGF23, FGFR3, HRAS, KRAS
4MP:00020068.7FGFR3, HRAS, KRAS, NRAS, PIK3CA
5MP:00030128.7FGFR3, HRAS, KRAS, NRAS, PIK3CA
6MP:00053858.4FGF23, HRAS, KRAS, NRAS, PIK3CA
7MP:00053798.4FGF23, HRAS, KRAS, NRAS, PIK3CA
8MP:00053788.0FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
9MP:00053768.0FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
10MP:00107718.0FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
11MP:00107687.9FGF23, FGFR3, HRAS, KRAS, NRAS, PIK3CA
12MP:00053907.6FGF23, FGFR3, HRAS, KRAS, PIK3CA

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 Nevus27
2 Epidermal Nevus Syndrome27
3 Nevus, Woolly Hair27

Anatomical Context for Epidermal Nevus, Somatic

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MalaCards organs/tissues related to Epidermal Nevus, Somatic:

36
Skin, Brain, Eye, Bone, Spinal cord, Kidney

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:

70
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 11)
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_ 004985.4(KRAS): c.35G> A (p.Gly12Asp)SNVPathogenic/ Likely pathogenicrs121913529GRCh37Chr 12, 25398284: 25398284
2HRASNM_ 005343.3(HRAS): c.35G> T (p.Gly12Val)SNVPathogenic/ Likely pathogenicrs104894230GRCh37Chr 11, 534288: 534288
3HRASNM_ 005343.3(HRAS): c.34G> T (p.Gly12Cys)SNVPathogenic/ Likely pathogenicrs104894229GRCh37Chr 11, 534289: 534289
4PIK3CANM_ 006218.3(PIK3CA): c.1634A> G (p.Glu545Gly)SNVPathogenic/ Likely pathogenicrs121913274GRCh37Chr 3, 178936092: 178936092
5NRASNM_ 002524.4(NRAS): c.182A> G (p.Gln61Arg)SNVPathogenic/ Likely pathogenicrs11554290GRCh37Chr 1, 115256529: 115256529
6FGFR3NM_ 000142.4(FGFR3): c.742C> T (p.Arg248Cys)SNVPathogenic/ Likely pathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
7FGFR3NM_ 000142.4(FGFR3): c.1138G> A (p.Gly380Arg)SNV, HaplotypePathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
8FGFR3NM_ 000142.4(FGFR3): c.1108G> T (p.Gly370Cys)SNVPathogenic/ Likely pathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
9HRASNM_ 005343.3(HRAS): c.37G> C (p.Gly13Arg)SNVPathogenic/ Likely pathogenicrs104894228GRCh37Chr 11, 534286: 534286
10NRASNM_ 002524.4(NRAS): c.101C> T (p.Pro34Leu)SNVPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681
11NRASNM_ 002524.4(NRAS): c.35G> A (p.Gly12Asp)SNVPathogenic/ Likely pathogenicrs121913237GRCh37Chr 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 138)
idSuper pathwaysScoreTop Affiliating Genes
19.3HRAS, PIK3CA
29.3HRAS, PIK3CA
39.3HRAS, PIK3CA
49.3HRAS, PIK3CA
59.3HRAS, PIK3CA
69.3HRAS, PIK3CA
79.3HRAS, PIK3CA
89.3HRAS, PIK3CA
99.3HRAS, PIK3CA
109.3KRAS, PIK3CA
119.3KRAS, PIK3CA
12
Show member pathways
9.2FGF23, FGFR3
139.0FGF23, PIK3CA
149.0HRAS, KRAS, NRAS
15
Show member pathways
9.0HRAS, KRAS, NRAS
16
Show member pathways
9.0HRAS, KRAS, NRAS
179.0HRAS, KRAS, NRAS
189.0HRAS, KRAS, NRAS
199.0HRAS, KRAS, NRAS
20
Show member pathways
9.0HRAS, KRAS, NRAS
219.0HRAS, KRAS, NRAS
22
Show member pathways
9.0HRAS, KRAS, NRAS
239.0HRAS, KRAS, NRAS
24
Show member pathways
9.0HRAS, KRAS, NRAS
25
Show member pathways
9.0HRAS, KRAS, NRAS
269.0HRAS, KRAS, NRAS
279.0HRAS, KRAS, NRAS
289.0HRAS, KRAS, NRAS
29
Show member pathways
9.0HRAS, KRAS, NRAS
309.0HRAS, KRAS, NRAS
319.0HRAS, KRAS, NRAS
32
Show member pathways
9.0HRAS, KRAS, NRAS
33
Show member pathways
9.0HRAS, KRAS, NRAS
34
Show member pathways
9.0HRAS, KRAS, NRAS
359.0HRAS, KRAS, NRAS
36
Show member pathways
9.0HRAS, KRAS, NRAS
37
Show member pathways
9.0HRAS, KRAS, NRAS
38
Show member pathways
9.0HRAS, KRAS, NRAS
39
Show member pathways
9.0HRAS, KRAS, NRAS
40
Show member pathways
9.0HRAS, KRAS, NRAS
41
Show member pathways
9.0HRAS, KRAS, NRAS
42
Show member pathways
9.0HRAS, KRAS, NRAS
439.0HRAS, KRAS, NRAS
449.0HRAS, KRAS, NRAS
45
Show member pathways
9.0HRAS, KRAS, NRAS
469.0HRAS, KRAS, NRAS
479.0HRAS, KRAS, NRAS
489.0HRAS, KRAS, NRAS
49
Show member pathways
9.0HRAS, KRAS, NRAS
50
Show member pathways
8.8HRAS, KRAS, PIK3CA

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 18)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAP kinase activityGO:004340610.1HRAS, KRAS
2regulation of long-term neuronal synaptic plasticityGO:004816910.1HRAS, KRAS
3response to isolation stressGO:003590010.1HRAS, KRAS
4Ras protein signal transductionGO:00072659.6HRAS, KRAS, NRAS
5small GTPase mediated signal transductionGO:00072649.5HRAS, KRAS, NRAS
6negative regulation of neuron apoptotic processGO:00435249.5HRAS, KRAS, PIK3CA
7positive regulation of ERK1 and ERK2 cascadeGO:00703749.4FGF23, FGFR3, HRAS
8phosphatidylinositol phosphorylationGO:00468549.3FGF23, FGFR3, PIK3CA
9phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.3FGF23, FGFR3, PIK3CA
10phosphatidylinositol-mediated signalingGO:00480159.3FGF23, FGFR3, PIK3CA
11regulation of phosphatidylinositol 3-kinase signalingGO:00140669.3FGF23, FGFR3, PIK3CA
12axon guidanceGO:00074119.1HRAS, KRAS, NRAS, PIK3CA
13epidermal growth factor receptor signaling pathwayGO:00071739.1HRAS, KRAS, NRAS, PIK3CA
14ERBB2 signaling pathwayGO:00381289.1HRAS, KRAS, NRAS, PIK3CA
15Fc-epsilon receptor signaling pathwayGO:00380959.1HRAS, KRAS, NRAS, PIK3CA
16leukocyte migrationGO:00509009.1HRAS, KRAS, NRAS, PIK3CA
17stimulatory C-type lectin receptor signaling pathwayGO:00022239.0HRAS, KRAS, NRAS
18MAPK cascadeGO:00001658.5FGF23, FGFR3, HRAS, KRAS, NRAS

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

idNameGO IDScoreTop Affiliating Genes
1GDP bindingGO:001900310.1HRAS, KRAS
2GTP bindingGO:00055259.7HRAS, KRAS, NRAS
3GTPase activityGO:00039249.6HRAS, KRAS, NRAS
41-phosphatidylinositol-3-kinase activityGO:00163039.3FGF23, FGFR3, PIK3CA
5nucleotide bindingGO:00001669.0FGFR3, HRAS, KRAS, NRAS
6phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469348.6FGF23, FGFR3, PIK3CA

Sources for Epidermal Nevus, Somatic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet