MCID: EPD053
MIFTS: 39

Epidermal Nevus, Somatic malady

Genetic diseases (common), Skin diseases categories

Aliases & Classifications for Epidermal Nevus, Somatic

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Aliases & Descriptions for Epidermal Nevus, Somatic:

Name: Epidermal Nevus, Somatic 49 11
Nevus Sebaceous or Woolly Hair Nevus, Somatic 49
Keratinocytic Non-Epidermolytic Nevus 67
Nevus, Sebaceous of Jadassohn 65
Organoid Nevus Phakomatosis 65
 
Nevus, Epidermal, Somatic 49
Nevus, Epidermal 65
Pigmented Moles 67
Knen 67


Classifications:



External Ids:

OMIM49 162900

Summaries for Epidermal Nevus, Somatic

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OMIM:49 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 nevus sebaceous or woolly hair nevus, somatic, is related to melanocytic nevus syndrome, congenital, somatic and dermoid cyst of ovary, and has symptoms including autosomal dominant inheritance, 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 Bisphosphonate Pathway, Pharmacodynamics and MAP2K and MAPK activation. Affiliated tissues include skin, and related mouse phenotypes are vision/eye and normal.

UniProtKB/Swiss-Prot:67 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 88)
idRelated DiseaseScoreTop Affiliating Genes
1melanocytic nevus syndrome, congenital, somatic30.1HRAS, NRAS
2dermoid cyst of ovary10.1
3mosaic trisomy 2210.1
4rectosigmoid junction neoplasm10.1KRAS, NRAS
5urethral syndrome10.1KRAS, NRAS
6ras-associated autoimmune leukoproliferative disorder10.1KRAS, NRAS
7giant papillary conjunctivitis10.1KRAS, NRAS
8benign neonatal seizures10.1FGFR3, PIK3CA
9malignant type ab thymoma10.1KRAS, NRAS
10inverted papilloma10.1FGFR3, PIK3CA
11microcystic meningioma10.1KRAS, NRAS
12pancreatic cystadenoma10.1KRAS, NRAS
13cholesterol ester storage disease10.1KRAS, NRAS
14mixed epithelial tumor of ovary10.1KRAS, NRAS
15pediatric liposarcoma10.1KRAS, NRAS
16keratosis, seborrheic, somatic10.0FGFR3, PIK3CA
17acinar cell carcinoma10.0NRAS, PIK3CA
18ovarian cancer, somatic10.0KRAS, PIK3CA
19gastric cancer, somatic10.0KRAS, PIK3CA
20smallpox10.0KRAS, NRAS
21plantar fascial fibromatosis10.0KRAS, PIK3CA
22kidney hemangiopericytoma10.0HRAS, KRAS
23toxic encephalopathy9.9HRAS, KRAS
24punctate acrokeratoderma freckle like pigmentation9.9HRAS, KRAS
25corneal ectasia9.9HRAS, PIK3CA
26ethmoid sinusitis9.9HRAS, PIK3CA
27kidney angiomyolipoma9.9FGFR3, PIK3CA
28costello syndrome9.9HRAS, KRAS
29lung combined type small cell carcinoma9.9HRAS, KRAS
30common variable immunodeficiency9.9HRAS, KRAS
31amyotrophic lateral sclerosis type 149.8HRAS, KRAS
32rectum adenocarcinoma9.8HRAS, KRAS
33tetrasomy 12p9.8HRAS, KRAS, NRAS
34sinoatrial node disease9.8HRAS, KRAS, NRAS
35mediastinum leiomyoma9.8HRAS, KRAS, NRAS
36adult central nervous system germinoma9.8HRAS, KRAS, NRAS
37sublingual gland adenoid cystic carcinoma9.8HRAS, KRAS, NRAS
38hepatic flexure cancer9.8HRAS, KRAS, NRAS
39bilateral hypoactive labyrinth9.8HRAS, KRAS, NRAS
40myelofibrosis9.8HRAS, KRAS, NRAS
41vulval paget's disease9.8HRAS, KRAS, NRAS
42ovarian cystadenoma9.8HRAS, KRAS, NRAS
43radiculopathy9.8HRAS, KRAS, NRAS
44amyloidosis9.8HRAS, KRAS, NRAS
45duodenum adenoma9.8HRAS, KRAS, NRAS
46vaginal yolk sac tumor9.8HRAS, KRAS, NRAS
47pneumonic plague9.8HRAS, KRAS, NRAS
48idiopathic scoliosis9.8HRAS, KRAS, NRAS
49corticosterone methyloxidase deficiency9.8HRAS, KRAS, NRAS
50duodenal disease9.8HRAS, KRAS, NRAS

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 autosomal dominant inheritance HP:0000006
2 melanocytic nevus HP:0000995
3 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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Anatomical Context for Epidermal Nevus, Somatic

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MalaCards organs/tissues related to Epidermal Nevus, Somatic:

33
Skin

Animal Models for Epidermal Nevus, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Epidermal Nevus, Somatic:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.8FGFR3, KRAS, NRAS, PIK3CA
2MP:00028738.6FGFR3, HRAS, KRAS, NRAS
3MP:00030128.5FGFR3, HRAS, NRAS, PIK3CA
4MP:00053788.0FGFR3, HRAS, KRAS, NRAS, PIK3CA
5MP:00107718.0FGFR3, HRAS, KRAS, NRAS, PIK3CA
6MP:00020068.0FGFR3, HRAS, KRAS, NRAS, PIK3CA
7MP:00053767.7FGFR3, HRAS, KRAS, NRAS, PIK3CA

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:

67
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg248CysVAR_004148
2FGFR3p.Gly370CysVAR_004151
3FGFR3p.Gly380ArgVAR_004155rs28931614
4NRASp.Gln61ArgVAR_006847rs11554290
5NRASp.Gly12AspVAR_071129
6NRASp.Pro34LeuVAR_071130

Clinvar genetic disease variations for Epidermal Nevus, Somatic:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.35G> A (p.Gly12Asp)single nucleotide variantPathogenic, drug responsers121913529GRCh37Chr 12, 25398284: 25398284
2NM_005343.2(HRAS): c.35G> T (p.Gly12Val)single nucleotide variantPathogenicrs104894230GRCh37Chr 11, 534288: 534288
3NM_005343.2(HRAS): c.34G> T (p.Gly12Cys)single nucleotide variantPathogenicrs104894229GRCh37Chr 11, 534289: 534289
4PIK3CANM_006218.2(PIK3CA): c.1634A> G (p.Glu545Gly)single nucleotide variantPathogenicrs121913274GRCh37Chr 3, 178936092: 178936092
5NRASNM_002524.4(NRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs11554290GRCh37Chr 1, 115256529: 115256529
6FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
7FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
8FGFR3NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)single nucleotide variantPathogenicrs28931614GRCh37Chr 4, 1806119: 1806119
9FGFR3NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)single nucleotide variantPathogenicrs121913479GRCh37Chr 4, 1806089: 1806089
10NM_005343.2(HRAS): c.37G> C (p.Gly13Arg)single nucleotide variantPathogenicrs104894228GRCh37Chr 11, 534286: 534286
11NRASNM_002524.4(NRAS): c.101C> T (p.Pro34Leu)single nucleotide variantPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681
12NRASNM_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 107)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.6HRAS, KRAS, NRAS
28.6HRAS, KRAS, NRAS
38.6HRAS, KRAS, NRAS
4
Show member pathways
8.6HRAS, KRAS, NRAS
58.6HRAS, KRAS, NRAS
68.6HRAS, KRAS, NRAS
78.6HRAS, KRAS, NRAS
88.6HRAS, KRAS, NRAS
9
Show member pathways
8.6HRAS, KRAS, NRAS
108.6HRAS, KRAS, NRAS
11
Show member pathways
8.2FGFR3, HRAS, KRAS, NRAS
128.2FGFR3, HRAS, KRAS, NRAS
138.2FGFR3, HRAS, KRAS, NRAS
14
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
158.0HRAS, KRAS, NRAS, PIK3CA
16
B cell receptor signaling pathway (KEGG)
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
17
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
188.0HRAS, KRAS, NRAS, PIK3CA
198.0HRAS, KRAS, NRAS, PIK3CA
20
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
218.0HRAS, KRAS, NRAS, PIK3CA
22
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
23
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
24
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
25
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
26
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
27
VEGF Pathway (Qiagen)
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
28
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
29
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
308.0HRAS, KRAS, NRAS, PIK3CA
31
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
32
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
33
VEGF Pathway (Tocris)
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
34
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
358.0HRAS, KRAS, NRAS, PIK3CA
36
Show member pathways
8.0HRAS, KRAS, NRAS, PIK3CA
378.0HRAS, KRAS, NRAS, PIK3CA
388.0HRAS, KRAS, NRAS, PIK3CA
39
Show member pathways
7.5FGFR3, HRAS, KRAS, NRAS, PIK3CA
40
Show member pathways
7.5FGFR3, HRAS, KRAS, NRAS, PIK3CA
417.5FGFR3, HRAS, KRAS, NRAS, PIK3CA
427.5FGFR3, HRAS, KRAS, NRAS, PIK3CA
43
Show member pathways
7.5FGFR3, HRAS, KRAS, NRAS, PIK3CA
44
Show member pathways
7.5FGFR3, HRAS, KRAS, NRAS, PIK3CA
457.5FGFR3, HRAS, KRAS, NRAS, PIK3CA
467.5FGFR3, HRAS, KRAS, NRAS, PIK3CA
47
Show member pathways
7.5FGFR3, HRAS, KRAS, NRAS, PIK3CA
48
Show member pathways
7.5FGFR3, HRAS, KRAS, NRAS, PIK3CA
49
Show member pathways
7.5FGFR3, HRAS, KRAS, NRAS, PIK3CA
507.5FGFR3, HRAS, KRAS, NRAS, 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 19)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAP kinase activityGO:00434069.6HRAS, KRAS
2social behaviorGO:00351769.6HRAS, KRAS
3stimulatory C-type lectin receptor signaling pathwayGO:00022239.2HRAS, KRAS, NRAS
4positive regulation of cell proliferationGO:00082849.2FGFR3, HRAS, KRAS
5protein transportGO:00150318.8HRAS, KRAS, NRAS
6MAPK cascadeGO:00001658.6FGFR3, HRAS, KRAS, NRAS
7activation of MAPKK activityGO:00001868.6FGFR3, HRAS, KRAS, NRAS
8Ras protein signal transductionGO:00072658.5FGFR3, HRAS, KRAS, NRAS
9leukocyte migrationGO:00509008.5HRAS, KRAS, NRAS, PIK3CA
10axon guidanceGO:00074118.4FGFR3, HRAS, KRAS, NRAS
11small GTPase mediated signal transductionGO:00072648.2FGFR3, HRAS, KRAS, NRAS
12insulin receptor signaling pathwayGO:00082867.9FGFR3, HRAS, KRAS, NRAS, PIK3CA
13fibroblast growth factor receptor signaling pathwayGO:00085437.9FGFR3, HRAS, KRAS, NRAS, PIK3CA
14Fc-epsilon receptor signaling pathwayGO:00380957.9FGFR3, HRAS, KRAS, NRAS, PIK3CA
15neurotrophin TRK receptor signaling pathwayGO:00480117.9FGFR3, HRAS, KRAS, NRAS, PIK3CA
16epidermal growth factor receptor signaling pathwayGO:00071737.8FGFR3, HRAS, KRAS, NRAS, PIK3CA
17blood coagulationGO:00075967.7HRAS, KRAS, NRAS, PIK3CA
18innate immune responseGO:00450877.7FGFR3, HRAS, KRAS, NRAS, PIK3CA
19vascular endothelial growth factor receptor signaling pathwayGO:00480107.6FGFR3, HRAS, KRAS, NRAS, PIK3CA

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

idNameGO IDScoreTop Affiliating Genes
1GTP bindingGO:00055258.6HRAS, KRAS, NRAS

Sources for Epidermal Nevus, Somatic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet