KNEN
MCID: NVS017
MIFTS: 66

Nevus, Epidermal (KNEN)

Categories: Bone diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Nevus, Epidermal

MalaCards integrated aliases for Nevus, Epidermal:

Name: Nevus, Epidermal 58 41 74
Epidermal Nevus 12 54 26 30 6 15
Epidermal Nevus Syndrome 60 30 56 6
Epidermal Nevus, Somatic 58 13
Woolly Hair Nevus 60 74
Nevus Sebaceous or Woolly Hair Nevus, Somatic 58
Nevus, Keratinocytic, Nonepidermolytic 58
Keratinocytic Non-Epidermolytic Nevus 76
Nonepidermolytic Keratinocytic Nevus 12
Epidermal Hamartoma Syndrome 60
Organoid Nevus Phakomatosis 74
Nevus, Epidermal, Somatic 58
Melanocytic Nevus of Skin 74
Nevus, Woolly Hair 6
Melanocytic Nevus 74
Epidermal Naevus 26
Wooly Hair Nevus 60
Pigmented Moles 76
Nevus Sebaceous 74
Knen 76

Characteristics:

Orphanet epidemiological data:

60
epidermal nevus syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;
woolly hair nevus
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
somatic


HPO:

33
nevus, epidermal:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Nevus, Epidermal

OMIM : 58 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 : Nevus, Epidermal, also known as epidermal nevus, is related to schimmelpenning-feuerstein-mims syndrome and epidermolytic nevus, and has symptoms including seizures An important gene associated with Nevus, Epidermal is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Developmental Biology. The drugs Mitogens and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are nevus and pain

Disease Ontology : 12 A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.

Genetics Home Reference : 26 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 : 54 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Epidermal nevus syndrome (also known as "Feuerstein and Mims syndrome", and "Solomon''s syndrome") is a... more...

Related Diseases for Nevus, Epidermal

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

(show top 50) (show all 211)
# Related Disease Score Top Affiliating Genes
1 schimmelpenning-feuerstein-mims syndrome 32.6 HRAS KRAS NRAS
2 epidermolytic nevus 32.5 FGFR3 NRAS
3 melanocytic nevus syndrome, congenital 32.5 HRAS NRAS
4 keratosis, seborrheic 30.4 FGFR3 KRT10 PIK3CA
5 acanthoma 30.4 KRT1 KRT10
6 epidermolytic hyperkeratosis 30.1 KRT1 KRT10 KRT16
7 apocrine adenoma 30.1 HRAS KRAS PIK3CA
8 epidermolytic acanthoma 30.0 KRT1 KRT10
9 papilloma 30.0 FGFR3 KRT1 KRT10
10 keratosis 29.9 FGFR3 KRT1 KRT10 PIK3CA
11 myeloma, multiple 29.9 FGFR3 HRAS KRAS NRAS
12 bladder urothelial carcinoma 29.7 FGFR3 HRAS KRAS NRAS PIK3CA
13 white sponge nevus 1 29.6 KRT1 KRT10 KRT16
14 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.4
15 epidermal nevus vitamin d resistant rickets 12.3
16 becker nevus syndrome 12.2
17 papular epidermal nevi with skyline basal cell layers syndrome 11.9
18 nevus comedonicus 11.7
19 nevoid hypermelanosis, linear and whorled 11.5
20 klippel-trenaunay-weber syndrome 11.2
21 verruciform xanthoma of skin 11.2
22 mosaic trisomy 22 11.1
23 sigmoid neoplasm 10.4 HRAS KRAS
24 giant congenital nevus 10.4 HRAS NRAS
25 periampullary adenoma 10.4 HRAS KRAS
26 paronychia 10.4 HRAS KRAS
27 benign struma ovarii 10.4 HRAS NRAS
28 bile duct cysts 10.4 HRAS KRAS
29 rare adenocarcinoma of the breast 10.4 KRAS PIK3CA
30 ovarian melanoma 10.4 HRAS NRAS
31 prostate adenoid cystic carcinoma 10.4 HRAS PIK3CA
32 psoriasis 10.4
33 malignant conjunctival melanoma 10.4 HRAS NRAS
34 dermatosis papulosa nigra 10.4 FGFR3 PIK3CA
35 melanomatosis 10.4 HRAS NRAS
36 appendix disease 10.4 HRAS KRAS
37 marcus gunn phenomenon 10.4 HRAS NRAS
38 nasal cavity adenocarcinoma 10.4 HRAS KRAS
39 ethmoid sinus cancer 10.4 HRAS PIK3CA
40 ethmoid sinus adenocarcinoma 10.4 HRAS PIK3CA
41 rickets 10.3
42 malignant struma ovarii 10.3 HRAS NRAS
43 secondary hypertrophic osteoarthropathy 10.3 HRAS KRAS
44 nodular malignant melanoma 10.3 HRAS NRAS
45 anal canal adenocarcinoma 10.3 HRAS KRAS
46 fetal adenoma 10.3 HRAS NRAS
47 core binding factor acute myeloid leukemia 10.3 HRAS KRAS NRAS
48 liver angiosarcoma 10.3 HRAS KRAS NRAS
49 myelodysplastic myeloproliferative cancer 10.3 HRAS NRAS
50 erdheim-chester disease 10.3 NRAS PIK3CA

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



Diseases related to Nevus, Epidermal

Symptoms & Phenotypes for Nevus, Epidermal

Human phenotypes related to Nevus, Epidermal:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0003764
2 pain 60 33 frequent (33%) Frequent (79-30%) HP:0012531
3 spinal canal stenosis 60 33 frequent (33%) Frequent (79-30%) HP:0003416
4 progressive spastic paraparesis 60 33 frequent (33%) Frequent (79-30%) HP:0007199
5 hyperpigmentation of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0000953
6 hypopigmentation of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0001010
7 atrophy of the spinal cord 60 33 frequent (33%) Frequent (79-30%) HP:0006827
8 spinal cord compression 60 33 frequent (33%) Frequent (79-30%) HP:0002176
9 global developmental delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001263
10 delayed speech and language development 60 33 occasional (7.5%) Occasional (29-5%) HP:0000750
11 visual impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000505
12 babinski sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0003487
13 areflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001284
14 lipoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0012032
15 astigmatism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000483
16 spinal cord tumor 60 33 occasional (7.5%) Occasional (29-5%) HP:0010302
17 abnormality of brain morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0012443
18 thoracolumbar scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002944
19 weakness of long finger extensor muscles 60 33 occasional (7.5%) Occasional (29-5%) HP:0009077
20 osteopenia 60 33 very rare (1%) Very rare (<4-1%) HP:0000938
21 abnormal facial shape 60 33 very rare (1%) Very rare (<4-1%) HP:0001999
22 polycystic kidney dysplasia 60 33 very rare (1%) Very rare (<4-1%) HP:0000113
23 vitamin d deficiency 60 33 very rare (1%) Very rare (<4-1%) HP:0100512
24 rhabdomyosarcoma 60 33 very rare (1%) Very rare (<4-1%) HP:0002859
25 aortic aneurysm 33 very rare (1%) HP:0004942
26 hypertonia 60 Occasional (29-5%)
27 melanocytic nevus 33 HP:0000995
28 aortic dilatation 60 Very rare (<4-1%)
29 numerous nevi 33 HP:0001054

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Nevus, Epidermal:


seizures

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.94 HRAS KRAS PIK3CA
2 Decreased viability GR00106-A-0 9.94 KRAS
3 Decreased viability GR00221-A-1 9.94 HRAS KRAS PIK3CA FGFR3 NRAS
4 Decreased viability GR00221-A-2 9.94 HRAS KRAS PIK3CA FGFR3
5 Decreased viability GR00221-A-3 9.94 HRAS FGFR3 NRAS
6 Decreased viability GR00221-A-4 9.94 PIK3CA
7 Decreased viability GR00301-A 9.94 KRAS
8 Decreased viability GR00381-A-1 9.94 KRAS
9 Decreased viability GR00402-S-2 9.94 HRAS KRAS PIK3CA FGFR3 NRAS
10 Decreased cell migration GR00055-A-1 9.26 FGFR3 HRAS KRAS PIK3CA

MGI Mouse Phenotypes related to Nevus, Epidermal:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.09 FGF23 HRAS KRAS KRT1 LEMD3 MMP12
2 growth/size/body region MP:0005378 10.07 DSE FGF23 FGFR3 HRAS KRAS KRT1
3 homeostasis/metabolism MP:0005376 10.02 FGF23 FGFR3 HRAS KRAS KRT1 KRT16
4 integument MP:0010771 10 DSE FGF23 FGFR3 HRAS KRAS KRT1
5 digestive/alimentary MP:0005381 9.88 FGF23 FGFR3 HRAS KRAS KRT16 NRAS
6 mortality/aging MP:0010768 9.7 FGF23 FGFR3 HRAS KRAS KRT1 KRT16
7 limbs/digits/tail MP:0005371 9.63 DSE FGF23 FGFR3 KRAS NRAS NSDHL
8 skeleton MP:0005390 9.17 FGF23 FGFR3 HRAS KRAS NRAS NSDHL

Drugs & Therapeutics for Nevus, Epidermal

Drugs for Nevus, Epidermal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mitogens Phase 3
2 Antibodies Phase 3,Phase 2
3 Immunologic Factors Phase 3
4 Antibodies, Monoclonal Phase 3
5 Immunoglobulins Phase 3,Phase 2
6 Pharmaceutical Solutions Phase 2
7
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198
8 Vasodilator Agents
9 Antihypertensive Agents
10 Angiotensinogen
11 Angiotensin I (1-7)
12 Endothelial Growth Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open Label Trial Assessing Safety and Efficacy of Burosumab (KRN23), in a Patient With ENS and Hypophosphatemic Rickets Active, not recruiting NCT03581591 Phase 3
2 A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2 KRN23
3 Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS) Active, not recruiting NCT02304367 Phase 2
4 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
5 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Recruiting NCT03489993
6 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180

Search NIH Clinical Center for Nevus, Epidermal

Genetic Tests for Nevus, Epidermal

Genetic tests related to Nevus, Epidermal:

# Genetic test Affiliating Genes
1 Epidermal Nevus Syndrome 30 HRAS KRAS NRAS
2 Epidermal Nevus 30 FGFR3 HRAS NRAS PIK3CA

Anatomical Context for Nevus, Epidermal

MalaCards organs/tissues related to Nevus, Epidermal:

42
Skin, Eye, Bone, Brain, Spinal Cord, Kidney, Thyroid

Publications for Nevus, Epidermal

Articles related to Nevus, Epidermal:

(show top 50) (show all 441)
# Title Authors Year
1
Topical sirolimus therapy for epidermal nevus with features of acanthosis nigricans. ( 30983034 )
2019
2
Successful treatment of inflammatory linear verrucous epidermal nevus (ILVEN) with 308-nm excimer laser: patient patient required. ( 30648292 )
2019
3
Inflammatory linear verrucous epidermal nevus treated successfully with crisaborole ointment in a 5-year-old boy. ( 30838675 )
2019
4
A case of cutaneous horn arising in verrucous epidermal nevus. ( 29536972 )
2019
5
A Somatic p.Phe29del Mutation of Connexin 26 (GJB2) Manifesting as Acantholytic Dyskeratotic Epidermal Nevus. ( 30916736 )
2019
6
Successful Treatment of Inflammatory Linear Verrucous Epidermal Nevus with Concomitant Psoriasis Using Etanercept. ( 29606943 )
2018
7
Reconstruction of a buttock defect after excision of inflammatory linear verrucous epidermal nevus. ( 29624795 )
2018
8
Inflammatory linear verrucous epidermal nevus associated with erosive monoarthritis. ( 29974513 )
2018
9
Widely Spread Unilateral Inflammatory Linear Verrucous Epidermal Nevus (ILVEN). ( 30022937 )
2018
10
Treatment of inflammatory linear verrucous epidermal nevus pruritus with thalidomide. ( 30091521 )
2018
11
Inflammatory linear verrucous epidermal nevus responsive to 308-nm excimer laser treatment. ( 30235359 )
2018
12
Verruciform xanthoma overlying inflammatory linear verrucous epidermal nevus and in broad segmental distribution. ( 30337284 )
2018
13
Segmental epidermal nevus and mucosal neuromas associated with PIK3CA-related overgrowth spectrum disorder. ( 30511004 )
2018
14
Successful Treatment of Epidermal Nevus-associated Pruritus with Topical Ketamine-Amitriptyline-Lidocaine. ( 28972247 )
2018
15
Epidermal nevus syndromes: New insights into whorls and swirls. ( 29044700 )
2018
16
Familial papular epidermal nevus with "skyline" basal cell layer and multiple pilomatricomas: A new association? ( 29488242 )
2018
17
Familial papular epidermal nevus with "skyline" basal cell layer. ( 29575181 )
2018
18
Successful treatment of verrucous epidermal nevus with fractional micro-plasma radio-frequency technology and photodynamic therapy. ( 30130422 )
2018
19
Appearance of Verruca Over Linear Verrucous Epidermal Nevus - An Example of Locus Minoris Resistentiae: A Report of Three Cases. ( 30258804 )
2018
20
A Case of Cap Polyposis with Epidermal Nevus in an Infant. ( 28378565 )
2017
21
Dermoscopy of linear dermatosis along Blaschko's line in childhood: Lichen striatus versus inflammatory linear verrucous epidermal nevus. ( 28925078 )
2017
22
Is Ki-67, keratin 16, involucrin, and filaggrin immunostaining sufficient to diagnose inflammatory linear verrucous epidermal nevus? A report of eight cases and a comparison with psoriasis vulgaris. ( 29166506 )
2017
23
Inflammatory linear verrucous epidermal nevus: an unusual manifestation. ( 26426377 )
2017
24
Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva. ( 27890787 )
2017
25
A Case of "Inflammatory Linear Verrucous Epidermal Nevus" (ILVEN) Treated with CO2 Laser Ablation. ( 28785331 )
2017
26
Seborrheic keratosis arising on an epidermal nevus with HRAS p.G13R mutation. ( 28247919 )
2017
27
Nevoid Psoriasis Coexisting with Verrucous Epidermal Nevus. ( 28405565 )
2017
28
Er:YAG laser treatment of epidermal nevus syndrome. ( 27644122 )
2017
29
Massive Vulvar Linear Verrucous Epidermal Nevus Presenting at Menarche. ( 28093318 )
2017
30
Dermoscopy of Papular Epidermal Nevus with Skyline Basal Cell Layer. ( 28111793 )
2017
31
Papular Epidermal Nevus with "Skyline" Basal Cell Layer Syndrome - Natural Course: Case Report and Literature Review. ( 28203156 )
2017
32
Papillary transitional cell bladder carcinoma and systematized epidermal nevus syndrome. ( 28207006 )
2017
33
Widespread epidermal nevus with a postzygotic FGFR3 mutation. ( 28664990 )
2017
34
Giant Cutaneous Horn Arising in an Epidermal Nevus. ( 28783212 )
2017
35
Spatial co-occurrence of hemangioma and epidermal nevus. ( 26566756 )
2016
36
Two cases of agminated keratinocytic epidermal nevus resembling segmentally arranged seborrheic keratosis. ( 27154009 )
2016
37
Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome. ( 27502266 )
2016
38
Dermoscopy of verrucous epidermal nevus: large brown circles as a novel feature for diagnosis. ( 26475079 )
2016
39
Novel postzygotic KRAS mutation in a Japanese case of epidermal nevus syndrome presenting with two distinct clinical features, keratinocytic epidermal nevi and sebaceous nevi. ( 26498739 )
2016
40
Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature. ( 26939784 )
2016
41
Linear Epidermal Nevus: A Case Report With Oral and Facial Manifestations. ( 27160364 )
2016
42
Cutaneous and brain malformations of epidermal nevus syndrome: A classical image. ( 27857810 )
2016
43
Multiple basal cell carcinomas arising in an epidermal nevus. ( 27879078 )
2016
44
First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities. ( 28083460 )
2016
45
Squamous cell carcinoma arising in a multiple verrucous epidermal nevus. ( 28300931 )
2016
46
Basal cell carcinoma arising on a verrucous epidermal nevus: a case report. ( 25848348 )
2015
47
Multifocal basal cell carcinoma arising within a linear epidermal nevus. ( 25657916 )
2015
48
A Case of Inflammatory Linear Verrucous Epidermal Nevus on the Upper Eyelid. ( 26120188 )
2015
49
Genital/Perigenital Inflammatory Linear Verrucous Epidermal Nevus: A Case Series. ( 26677274 )
2015
50
Inflammatory linear verrucous epidermal nevus and regional odontodysplasia: A rare sorority. ( 26752881 )
2015

Variations for Nevus, Epidermal

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

76
# 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 Nevus, Epidermal:

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
2 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
3 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
4 KRAS NM_004985.4(KRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
5 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh37 Chromosome 12, 25362838: 25362838
6 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh38 Chromosome 12, 25209904: 25209904
7 HRAS NM_005343.2(HRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
8 HRAS NM_005343.2(HRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs104894230 GRCh38 Chromosome 11, 534288: 534288
9 HRAS NM_176795.4(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
10 HRAS NM_176795.4(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
11 HRAS NM_005343.2(HRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
12 HRAS NM_005343.2(HRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs104894230 GRCh38 Chromosome 11, 534288: 534288
13 HRAS NM_005343.2(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
14 HRAS NM_005343.2(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894230 GRCh38 Chromosome 11, 534288: 534288
15 HRAS NM_005343.4(HRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
16 HRAS NM_005343.4(HRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic rs104894228 GRCh38 Chromosome 11, 534286: 534286
17 HRAS NM_005343.2(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
18 HRAS NM_005343.2(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
19 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
20 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh38 Chromosome 3, 179218304: 179218304
21 NRAS NM_002524.3(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
22 NRAS NM_002524.3(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
23 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
24 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
25 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
26 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh38 Chromosome 4, 1801837: 1801837
27 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
28 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh38 Chromosome 4, 1805644: 1805644
29 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh37 Chromosome 4, 1803568: 1803568
30 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh38 Chromosome 4, 1801841: 1801841
31 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
32 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
33 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic rs121913479 GRCh37 Chromosome 4, 1806089: 1806089
34 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic rs121913479 GRCh38 Chromosome 4, 1804362: 1804362
35 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
36 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh38 Chromosome 11, 534286: 534286
37 NRAS NM_002524.4(NRAS): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs397514553 GRCh37 Chromosome 1, 115258681: 115258681
38 NRAS NM_002524.4(NRAS): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs397514553 GRCh38 Chromosome 1, 114716060: 114716060
39 NRAS NM_002524.3(NRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913237 GRCh37 Chromosome 1, 115258747: 115258747
40 NRAS NM_002524.3(NRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913237 GRCh38 Chromosome 1, 114716126: 114716126
41 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh37 Chromosome 3, 178952084: 178952084
42 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh38 Chromosome 3, 179234296: 179234296
43 HRAS NM_005343.4(HRAS): c.520C> T (p.Pro174Ser) single nucleotide variant Benign rs397517144 GRCh37 Chromosome 11, 532686: 532686
44 HRAS NM_005343.4(HRAS): c.520C> T (p.Pro174Ser) single nucleotide variant Benign rs397517144 GRCh38 Chromosome 11, 532686: 532686
45 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh37 Chromosome 4, 1807890: 1807890
46 FGFR3 NM_000142.4(FGFR3): c.1949A> C (p.Lys650Thr) single nucleotide variant Pathogenic rs121913105 GRCh38 Chromosome 4, 1806163: 1806163
47 HRAS NM_176795.4(HRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Likely pathogenic rs121913233 GRCh38 Chromosome 11, 533874: 533874
48 HRAS NM_176795.4(HRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Likely pathogenic rs121913233 GRCh37 Chromosome 11, 533874: 533874
49 COL7A1 NM_000094.3(COL7A1): c.1442G> A (p.Arg481His) single nucleotide variant Likely pathogenic rs147040026 GRCh38 Chromosome 3, 48591738: 48591738
50 COL7A1 NM_000094.3(COL7A1): c.1442G> A (p.Arg481His) single nucleotide variant Likely pathogenic rs147040026 GRCh37 Chromosome 3, 48629171: 48629171

Expression for Nevus, Epidermal

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

Pathways for Nevus, Epidermal

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

(show top 50) (show all 104)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
2
Show member pathways
13.36 FGF23 FGFR3 HRAS KRAS KRT1 KRT10
3
Show member pathways
13.35 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
4
Show member pathways
13.06 FGF23 FGFR3 HRAS KRAS NRAS
5
Show member pathways
13.05 FGF23 FGFR3 HRAS KRAS NRAS
6
Show member pathways
13.05 HRAS KRAS KRT10 KRT16 NRAS PIK3CA
7
Show member pathways
13.01 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
8
Show member pathways
12.88 FGFR3 HRAS KRAS NRAS PIK3CA
9
Show member pathways
12.85 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
10 12.81 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
11
Show member pathways
12.8 HRAS KRAS NRAS PIK3CA
12 12.79 FGF23 FGFR3 HRAS KRAS NRAS
13
Show member pathways
12.78 FGF23 HRAS KRAS NRAS PIK3CA
14
Show member pathways
12.71 HRAS KRAS NRAS PIK3CA
15
Show member pathways
12.68 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
16
Show member pathways
12.67 HRAS KRAS NRAS PIK3CA
17
Show member pathways
12.65 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
18
Show member pathways
12.65 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
19
Show member pathways
12.6 HRAS KRAS NRAS PIK3CA
20
Show member pathways
12.59 HRAS KRAS NRAS PIK3CA
21
Show member pathways
12.59 HRAS KRAS NRAS PIK3CA
22
Show member pathways
12.58 HRAS KRAS NRAS PIK3CA
23
Show member pathways
12.54 HRAS KRAS NRAS PIK3CA
24 12.54 FGFR3 HRAS KRAS NRAS PIK3CA
25
Show member pathways
12.53 HRAS KRAS NRAS PIK3CA
26
Show member pathways
12.51 FGFR3 HRAS KRAS NRAS PIK3CA
27
Show member pathways
12.5 HRAS KRAS NRAS PIK3CA
28 12.5 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
29
Show member pathways
12.49 HRAS KRAS NRAS PIK3CA
30
Show member pathways
12.43 HRAS KRAS NRAS PIK3CA
31
Show member pathways
12.43 HRAS KRAS NRAS PIK3CA
32
Show member pathways
12.43 FGFR3 HRAS KRAS NRAS PIK3CA
33
Show member pathways
12.42 HRAS KRAS NRAS PIK3CA
34
Show member pathways
12.41 HRAS KRAS NRAS PIK3CA
35 12.39 HRAS KRAS NRAS PIK3CA
36
Show member pathways
12.36 HRAS KRAS NRAS PIK3CA
37
Show member pathways
12.36 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
38
Show member pathways
12.35 HRAS KRAS NRAS PIK3CA
39 12.33 HRAS KRAS NRAS PIK3CA
40 12.33 HRAS KRAS NRAS PIK3CA
41
Show member pathways
12.27 HRAS KRAS NRAS PIK3CA
42 12.27 HRAS KRAS NRAS PIK3CA
43
Show member pathways
12.27 FGFR3 HRAS KRAS NRAS
44
Show member pathways
12.26 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
45
Show member pathways
12.25 HRAS KRAS NRAS PIK3CA
46
Show member pathways
12.24 HRAS KRAS MMP12 NRAS PIK3CA
47
Show member pathways
12.23 HRAS KRAS NRAS PIK3CA
48 12.21 HRAS KRAS NRAS PIK3CA
49
Show member pathways
12.21 HRAS KRAS NRAS PIK3CA
50
Show member pathways
12.2 FGFR3 HRAS KRAS NRAS PIK3CA

GO Terms for Nevus, Epidermal

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.67 FGF23 FGFR3 PIK3CA
2 negative regulation of neuron apoptotic process GO:0043524 9.63 HRAS KRAS PIK3CA
3 cornification GO:0070268 9.54 KRT1 KRT10 KRT16
4 Ras protein signal transduction GO:0007265 9.5 HRAS KRAS NRAS
5 regulation of long-term neuronal synaptic plasticity GO:0048169 9.48 HRAS KRAS
6 establishment of skin barrier GO:0061436 9.43 KRT1 KRT16
7 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.33 HRAS KRAS NRAS
8 response to isolation stress GO:0035900 9.26 HRAS KRAS
9 phosphatidylinositol phosphorylation GO:0046854 9.1 PIK3CA
10 MAPK cascade GO:0000165 9.02 FGF23 FGFR3 HRAS KRAS NRAS
11 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.65 PIK3CA

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.56 FGFR3 HRAS KRAS NRAS
2 structural constituent of epidermis GO:0030280 9.16 KRT1 KRT10
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.65 PIK3CA
4 1-phosphatidylinositol-3-kinase activity GO:0016303 8.32 PIK3CA

Sources for Nevus, Epidermal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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