KNEN
MCID: NVS017
MIFTS: 68

Nevus, Epidermal (KNEN)

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

Aliases & Classifications for Nevus, Epidermal

MalaCards integrated aliases for Nevus, Epidermal:

Name: Nevus, Epidermal 57 40 73
Epidermal Nevus 12 53 25 29 6 15
Epidermal Nevus Syndrome 59 29 55 6
Epidermal Nevus, Somatic 57 13
Nevus, Woolly Hair 29 6
Woolly Hair Nevus 59 73
Nevus Sebaceous or Woolly Hair Nevus, Somatic 57
Nevus, Keratinocytic, Nonepidermolytic 57
Keratinocytic Non-Epidermolytic Nevus 75
Nonepidermolytic Keratinocytic Nevus 12
Epidermal Hamartoma Syndrome 59
Organoid Nevus Phakomatosis 73
Nevus, Epidermal, Somatic 57
Melanocytic Nevus of Skin 73
Melanocytic Nevus 73
Epidermal Naevus 25
Wooly Hair Nevus 59
Pigmented Moles 75
Nevus Sebaceous 73
Knen 75

Characteristics:

Orphanet epidemiological data:

59
epidermal nevus syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;
woolly hair nevus
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
somatic


HPO:

32
nevus, epidermal:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Nevus, Epidermal

OMIM : 57 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 Activation of cAMP-Dependent PKA and TGF-Beta Pathway. The drugs Immunoglobulins and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are osteopenia and global developmental delay

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

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 : 53 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 : 75 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 Nevus, Epidermal

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

(show top 50) (show all 192)
# Related Disease Score Top Affiliating Genes
1 schimmelpenning-feuerstein-mims syndrome 32.4 NRAS KRAS HRAS
2 epidermolytic nevus 32.3 FGFR3 NRAS
3 melanocytic nevus syndrome, congenital 32.0 NRAS HRAS
4 hemimegalencephaly 30.3 PIK3CA AKT3
5 apocrine adenoma 30.0 PIK3CA KRAS HRAS
6 proteus syndrome 29.9 PIK3CA IGF2 AKT3
7 keratosis 29.9 PIK3CA KRT10 FGFR3 ATP2A2
8 keratosis, seborrheic 29.8 PIK3CA KRT10 FGFR3
9 papilloma 29.7 KRT10 IGF2 FGFR3
10 white sponge nevus 1 29.7 KRT74 KRT16 KRT10
11 bladder urothelial carcinoma 29.6 PIK3CA NRAS KRAS HRAS FGFR3
12 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.4
13 epidermal nevus vitamin d resistant rickets 12.2
14 becker nevus syndrome 12.1
15 papular epidermal nevi with skyline basal cell layers syndrome 11.9
16 nevus comedonicus 11.6
17 nevoid hypermelanosis, linear and whorled 11.5
18 klippel-trenaunay-weber syndrome 11.2
19 verruciform xanthoma of skin 11.2
20 mosaic trisomy 22 11.1
21 psoriasis 10.4
22 rickets 10.3
23 sigmoid neoplasm 10.3 HRAS KRAS
24 giant congenital nevus 10.3 NRAS HRAS
25 paronychia 10.3 KRAS HRAS
26 periampullary adenoma 10.3 KRAS HRAS
27 benign struma ovarii 10.3 NRAS HRAS
28 rare adenocarcinoma of the breast 10.3 PIK3CA KRAS
29 ovarian melanoma 10.2 NRAS HRAS
30 prostate adenoid cystic carcinoma 10.2 PIK3CA HRAS
31 bile duct cysts 10.2 KRAS HRAS
32 squamous cell carcinoma 10.2
33 melanomatosis 10.2 NRAS HRAS
34 dermatosis papulosa nigra 10.2 PIK3CA FGFR3
35 malignant conjunctival melanoma 10.2 NRAS HRAS
36 appendix disease 10.2 KRAS HRAS
37 ethmoid sinus adenocarcinoma 10.2 PIK3CA HRAS
38 ethmoid sinus cancer 10.2 PIK3CA HRAS
39 nasal cavity adenocarcinoma 10.2 KRAS HRAS
40 marcus gunn phenomenon 10.2 NRAS HRAS
41 cutis marmorata telangiectatica congenita 10.2 PIK3CA AKT3
42 malignant struma ovarii 10.2 NRAS HRAS
43 megalencephaly-capillary malformation-polymicrogyria syndrome 10.2 PIK3CA AKT3
44 nodular malignant melanoma 10.2 NRAS HRAS
45 anal canal adenocarcinoma 10.2 KRAS HRAS
46 secondary hypertrophic osteoarthropathy 10.2 KRAS HRAS
47 core binding factor acute myeloid leukemia 10.2 NRAS KRAS HRAS
48 liver angiosarcoma 10.2 NRAS KRAS HRAS
49 erdheim-chester disease 10.2 PIK3CA NRAS
50 hereditary hypophosphatemic rickets 10.2

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



Diseases related to Nevus, Epidermal

Symptoms & Phenotypes for Nevus, Epidermal

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Nevus, Epidermal:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 very rare (1%) Very rare (<4-1%) HP:0000938
2 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
3 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
4 abnormal facial shape 59 32 very rare (1%) Very rare (<4-1%) HP:0001999
5 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
6 nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003764
7 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
8 polycystic kidney dysplasia 59 32 very rare (1%) Very rare (<4-1%) HP:0000113
9 pain 59 32 frequent (33%) Frequent (79-30%) HP:0012531
10 areflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001284
11 vitamin d deficiency 59 32 very rare (1%) Very rare (<4-1%) HP:0100512
12 spinal canal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0003416
13 lipoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012032
14 rhabdomyosarcoma 59 32 very rare (1%) Very rare (<4-1%) HP:0002859
15 astigmatism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000483
16 spinal cord tumor 59 32 occasional (7.5%) Occasional (29-5%) HP:0010302
17 progressive spastic paraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0007199
18 hyperpigmentation of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0000953
19 hypopigmentation of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0001010
20 abnormality of brain morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0012443
21 atrophy of the spinal cord 59 32 frequent (33%) Frequent (79-30%) HP:0006827
22 spinal cord compression 59 32 frequent (33%) Frequent (79-30%) HP:0002176
23 thoracolumbar scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002944
24 weakness of long finger extensor muscles 59 32 occasional (7.5%) Occasional (29-5%) HP:0009077
25 hypertonia 59 Occasional (29-5%)
26 melanocytic nevus 32 HP:0000995
27 aortic dilatation 59 Very rare (<4-1%)
28 aortic aneurysm 32 very rare (1%) HP:0004942
29 numerous nevi 32 HP:0001054

UMLS symptoms related to Nevus, Epidermal:


seizures

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.62 HRAS KRAS PIK3CA
2 Decreased viability GR00106-A-0 10.62 KRAS
3 Decreased viability GR00221-A-1 10.62 HRAS KRAS PIK3CA AKT3 FGFR3 NRAS
4 Decreased viability GR00221-A-2 10.62 HRAS KRAS PIK3CA AKT3 FGFR3
5 Decreased viability GR00221-A-3 10.62 HRAS AKT3 FGFR3 NRAS
6 Decreased viability GR00221-A-4 10.62 PIK3CA AKT3
7 Decreased viability GR00301-A 10.62 KRAS AKT3
8 Decreased viability GR00381-A-1 10.62 KRAS
9 Decreased viability GR00402-S-2 10.62 HRAS KRAS PIK3CA AKT3 FGFR3 NRAS
10 Decreased cell migration GR00055-A-1 9.55 AKT3 FGFR3 HRAS KRAS PIK3CA
11 Reduced mammosphere formation GR00396-S 9.1 AKT3 ATP2A2 HRAS IGF2 KRAS NRAS

MGI Mouse Phenotypes related to Nevus, Epidermal:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.26 AKT3 ATP2A2 FGFR3 HRAS IGF2 KRAS
2 growth/size/body region MP:0005378 10.24 AKT3 ATP2A2 FGF23 FGFR3 HRAS IGF2
3 homeostasis/metabolism MP:0005376 10.22 AKT3 ATP2A2 FGF23 FGFR3 HRAS IGF2
4 cardiovascular system MP:0005385 10.2 AKT3 ATP2A2 FGF23 HRAS IGF2 KRAS
5 mortality/aging MP:0010768 10.18 AKT3 ATP2A2 FGF23 FGFR3 HRAS IGF2
6 integument MP:0010771 10.16 ATP2A2 FGF23 FGFR3 HRAS IGF2 KRAS
7 digestive/alimentary MP:0005381 10.13 ATP2A2 FGF23 FGFR3 HRAS IGF2 KRAS
8 endocrine/exocrine gland MP:0005379 10.05 AKT3 FGF23 HRAS IGF2 KRAS NRAS
9 craniofacial MP:0005382 10.01 FGFR3 HRAS IGF2 KRAS KRT16 NRAS
10 limbs/digits/tail MP:0005371 9.91 FGF23 FGFR3 IGF2 KRAS NRAS NSDHL
11 neoplasm MP:0002006 9.91 AKT3 ATP2A2 FGFR3 HRAS KRAS NRAS
12 no phenotypic analysis MP:0003012 9.8 FGFR3 HRAS IGF2 KRAS NRAS PIK3CA
13 renal/urinary system MP:0005367 9.73 ATP2A2 FGF23 FGFR3 HRAS IGF2 KRAS
14 reproductive system MP:0005389 9.7 AKT3 ATP2A2 FGF23 FGFR3 IGF2 KRAS
15 respiratory system MP:0005388 9.43 ATP2A2 FGF23 FGFR3 HRAS IGF2 KRAS
16 skeleton MP:0005390 9.28 ATP2A2 FGF23 FGFR3 HRAS IGF2 KRAS

Drugs & Therapeutics for Nevus, Epidermal

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 3,Phase 2
2 Antibodies, Monoclonal Phase 3
3 Mitogens Phase 3
4 Antibodies Phase 3,Phase 2
5 Pharmaceutical Solutions Phase 2
6
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
7 Endothelial Growth Factors
8 Angiotensin I (1-7)
9 Vasodilator Agents
10 Antihypertensive Agents
11 Angiotensinogen

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 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 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
6 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Not yet recruiting NCT03489993

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 29 HRAS KRAS NRAS
2 Epidermal Nevus 29 FGFR3 HRAS NRAS PIK3CA
3 Nevus, Woolly Hair 29

Anatomical Context for Nevus, Epidermal

MalaCards organs/tissues related to Nevus, Epidermal:

41
Skin, Brain, Bone, Eye, Spinal Cord, Kidney, Lung

Publications for Nevus, Epidermal

Articles related to Nevus, Epidermal:

(show top 50) (show all 385)
# Title Authors Year
1
Inflammatory linear verrucous epidermal nevus associated with erosive monoarthritis. ( 29974513 )
2018
2
Reconstruction of a buttock defect after excision of inflammatory linear verrucous epidermal nevus. ( 29624795 )
2018
3
Successful Treatment of Inflammatory Linear Verrucous Epidermal Nevus with Concomitant Psoriasis Using Etanercept. ( 29606943 )
2018
4
Widely Spread Unilateral Inflammatory Linear Verrucous Epidermal Nevus (ILVEN). ( 30022937 )
2018
5
Treatment of inflammatory linear verrucous epidermal nevus pruritus with thalidomide. ( 30091521 )
2018
6
Inflammatory linear verrucous epidermal nevus responsive to 308-nm excimer laser treatment. ( 30235359 )
2018
7
Verruciform xanthoma overlying inflammatory linear verrucous epidermal nevus and in broad segmental distribution. ( 30337284 )
2018
8
Segmental epidermal nevus and mucosal neuromas associated with PIK3CA-related overgrowth spectrum disorder. ( 30511004 )
2018
9
Successful Treatment of Epidermal Nevus-associated Pruritus with Topical Ketamine-Amitriptyline-Lidocaine. ( 28972247 )
2018
10
Epidermal nevus syndromes: New insights into whorls and swirls. ( 29044700 )
2018
11
Familial papular epidermal nevus with "skyline" basal cell layer and multiple pilomatricomas: A new association? ( 29488242 )
2018
12
A case of cutaneous horn arising in verrucous epidermal nevus. ( 29536972 )
2018
13
Familial papular epidermal nevus with "skyline" basal cell layer. ( 29575181 )
2018
14
Successful treatment of verrucous epidermal nevus with fractional micro-plasma radio-frequency technology and photodynamic therapy. ( 30130422 )
2018
15
Appearance of Verruca Over Linear Verrucous Epidermal Nevus - An Example of Locus Minoris Resistentiae: A Report of Three Cases. ( 30258804 )
2018
16
A Case of Cap Polyposis with Epidermal Nevus in an Infant. ( 28378565 )
2017
17
Dermoscopy of linear dermatosis along Blaschko's line in childhood: Lichen striatus versus inflammatory linear verrucous epidermal nevus. ( 28925078 )
2017
18
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
19
A Case of &amp;quot;Inflammatory Linear Verrucous Epidermal Nevus&amp;quot; (ILVEN) Treated with CO2 Laser Ablation. ( 28785331 )
2017
20
Inflammatory linear verrucous epidermal nevus: an unusual manifestation. ( 26426377 )
2017
21
Seborrheic keratosis arising on an epidermal nevus with HRAS p.G13R mutation. ( 28247919 )
2017
22
Er:YAG laser treatment of epidermal nevus syndrome. ( 27644122 )
2017
23
Massive Vulvar Linear Verrucous Epidermal Nevus Presenting at Menarche. ( 28093318 )
2017
24
Dermoscopy of Papular Epidermal Nevus with Skyline Basal Cell Layer. ( 28111793 )
2017
25
Papular Epidermal Nevus with "Skyline" Basal Cell Layer Syndrome - Natural Course: Case Report and Literature Review. ( 28203156 )
2017
26
Papillary transitional cell bladder carcinoma and systematized epidermal nevus syndrome. ( 28207006 )
2017
27
Nevoid Psoriasis Coexisting with Verrucous Epidermal Nevus. ( 28405565 )
2017
28
Widespread epidermal nevus with a postzygotic FGFR3 mutation. ( 28664990 )
2017
29
Giant Cutaneous Horn Arising in an Epidermal Nevus. ( 28783212 )
2017
30
Inflammatory linear verrucous epidermal nevus with a postzygotic GJA1 mutation is a mosaic erythrokeratodermia variabilis et progressiva. ( 27890787 )
2016
31
Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome. ( 27502266 )
2016
32
Two cases of agminated keratinocytic epidermal nevus resembling segmentally arranged seborrheic keratosis. ( 27154009 )
2016
33
Spatial co-occurrence of hemangioma and epidermal nevus. ( 26566756 )
2016
34
Dermoscopy of verrucous epidermal nevus: large brown circles as a novel feature for diagnosis. ( 26475079 )
2016
35
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
36
Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature. ( 26939784 )
2016
37
Linear Epidermal Nevus: A Case Report With Oral and Facial Manifestations. ( 27160364 )
2016
38
Cutaneous and brain malformations of epidermal nevus syndrome: A classical image. ( 27857810 )
2016
39
Multiple basal cell carcinomas arising in an epidermal nevus. ( 27879078 )
2016
40
First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities. ( 28083460 )
2016
41
Squamous cell carcinoma arising in a multiple verrucous epidermal nevus. ( 28300931 )
2016
42
Precocious puberty in a 3-year-old child with systematized verrucous epidermal nevus. ( 25751347 )
2015
43
Eruptive Syringocystadenoma Papilliferum, Keratoacanthoma, and Verruca Vulgaris in a Keratinocytic Epidermal Nevus on the Leg. ( 26790513 )
2015
44
Inflammatory linear verrucous epidermal nevus and regional odontodysplasia: A rare sorority. ( 26752881 )
2015
45
Genital/Perigenital Inflammatory Linear Verrucous Epidermal Nevus: A Case Series. ( 26677274 )
2015
46
Woolly Hair with Systematized Epidermal Nevus. ( 26538742 )
2015
47
Nd:YAG Q-switched laser for the treatment of a hemicorporal epidermal nevus: A safe and effective option. ( 25803678 )
2015
48
Multifocal basal cell carcinoma arising within a linear epidermal nevus. ( 25657916 )
2015
49
A Case of Inflammatory Linear Verrucous Epidermal Nevus on the Upper Eyelid. ( 26120188 )
2015
50
Basal cell carcinoma arising on a verrucous epidermal nevus: a case report. ( 25848348 )
2015

Variations for Nevus, Epidermal

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

75
# 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 all 32)
# 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 HRAS NM_005343.3(HRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
6 HRAS NM_005343.3(HRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs104894230 GRCh38 Chromosome 11, 534288: 534288
7 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
8 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
9 HRAS NM_005343.3(HRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
10 HRAS NM_005343.3(HRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs104894230 GRCh38 Chromosome 11, 534288: 534288
11 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
12 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
13 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
14 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh38 Chromosome 3, 179218304: 179218304
15 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
16 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
17 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
18 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
19 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
20 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh38 Chromosome 4, 1801837: 1801837
21 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic rs121913479 GRCh37 Chromosome 4, 1806089: 1806089
22 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic rs121913479 GRCh38 Chromosome 4, 1804362: 1804362
23 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
24 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh38 Chromosome 11, 534286: 534286
25 NRAS NM_002524.4(NRAS): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs397514553 GRCh37 Chromosome 1, 115258681: 115258681
26 NRAS NM_002524.4(NRAS): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs397514553 GRCh38 Chromosome 1, 114716060: 114716060
27 NRAS NM_002524.4(NRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913237 GRCh37 Chromosome 1, 115258747: 115258747
28 NRAS NM_002524.4(NRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913237 GRCh38 Chromosome 1, 114716126: 114716126
29 HRAS NM_005343.3(HRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Likely pathogenic rs121913233 GRCh38 Chromosome 11, 533874: 533874
30 HRAS NM_005343.3(HRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Likely pathogenic rs121913233 GRCh37 Chromosome 11, 533874: 533874
31 COL7A1 NM_000094.3(COL7A1): c.1442G> A (p.Arg481His) single nucleotide variant Likely pathogenic rs147040026 GRCh38 Chromosome 3, 48591738: 48591738
32 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 131)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
2
Show member pathways
13.59 AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
3
Show member pathways
13.5 AKT3 FGF23 FGFR3 HRAS KRAS NRAS
4
Show member pathways
13.46 AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
5
Show member pathways
13.45 AKT3 FGF23 FGFR3 HRAS KRAS KRT10
6
Show member pathways
13.39 ATP2A2 FGF23 FGFR3 HRAS IGF2 KRAS
7
Show member pathways
13.38 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
8
Show member pathways
13.38 AKT3 ATP2A2 HRAS IGF2 KRAS NRAS
9
Show member pathways
13.36 AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
10
Show member pathways
13.31 FGF23 FGFR3 HRAS IGF2 KRAS NRAS
11
Show member pathways
13.15 AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
12
Show member pathways
13.12 FGF23 FGFR3 HRAS IGF2 KRAS NRAS
13
Show member pathways
13.11 AKT3 HRAS KRAS KRT10 KRT16 NRAS
14
Show member pathways
13.08 AKT3 HRAS KRAS NRAS PIK3CA
15
Show member pathways
13.02 AKT3 HRAS IGF2 KRAS NRAS PIK3CA
16
Show member pathways
12.97 AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
17
Show member pathways
12.95 AKT3 HRAS KRAS NRAS PIK3CA
18
Show member pathways
12.95 AKT3 HRAS KRAS NRAS PIK3CA
19
Show member pathways
12.95 AKT3 HRAS KRAS NRAS PIK3CA
20
Show member pathways
12.95 AKT3 FGFR3 HRAS IGF2 KRAS NRAS
21
Show member pathways
12.94 AKT3 HRAS KRAS NRAS PIK3CA
22
Show member pathways
12.94 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
23
Show member pathways
12.92 AKT3 HRAS KRAS NRAS PIK3CA
24
Show member pathways
12.89 AKT3 HRAS IGF2 KRAS NRAS PIK3CA
25
Show member pathways
12.82 HRAS KRAS NRAS PIK3CA
26
Show member pathways
12.82 AKT3 FGF23 FGFR3 HRAS KRAS NRAS
27 12.81 AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
28
Show member pathways
12.8 AKT3 ATP2A2 HRAS KRAS NRAS
29
Show member pathways
12.8 AKT3 FGF23 HRAS IGF2 KRAS NRAS
30
Show member pathways
12.79 AKT3 HRAS KRAS NRAS PIK3CA
31
Show member pathways
12.75 AKT3 HRAS KRAS NRAS PIK3CA
32
Show member pathways
12.75 AKT3 FGF23 FGFR3 HRAS KRAS NRAS
33 12.73 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
34 12.73 AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
35
Show member pathways
12.69 AKT3 HRAS KRAS NRAS
36
Show member pathways
12.69 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
37
Show member pathways
12.68 AKT3 HRAS KRAS NRAS PIK3CA
38
Show member pathways
12.68 AKT3 HRAS KRAS NRAS PIK3CA
39
Show member pathways
12.63 AKT3 HRAS KRAS NRAS PIK3CA
40 12.61 FGFR3 HRAS KRAS NRAS PIK3CA
41
Show member pathways
12.59 AKT3 FGFR3 HRAS KRAS NRAS PIK3CA
42
Show member pathways
12.58 AKT3 HRAS KRAS NRAS PIK3CA
43
Show member pathways
12.58 AKT3 HRAS KRAS NRAS PIK3CA
44
Show member pathways
12.56 HRAS KRAS NRAS PIK3CA
45
Show member pathways
12.53 AKT3 HRAS KRAS NRAS PIK3CA
46 12.53 AKT3 HRAS KRAS NRAS PIK3CA
47
Show member pathways
12.52 AKT3 FGFR3 HRAS KRAS NRAS PIK3CA
48
Show member pathways
12.51 AKT3 HRAS KRAS NRAS PIK3CA
49
Show member pathways
12.5 AKT3 HRAS KRAS NRAS PIK3CA
50
Show member pathways
12.5 AKT3 HRAS KRAS NRAS PIK3CA

GO Terms for Nevus, Epidermal

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.69 HRAS KRAS PIK3CA
2 positive regulation of MAPK cascade GO:0043410 9.67 FGFR3 HRAS IGF2
3 phosphatidylinositol phosphorylation GO:0046854 9.63 FGF23 FGFR3 PIK3CA
4 cornification GO:0070268 9.61 KRT10 KRT16 KRT74
5 Ras protein signal transduction GO:0007265 9.58 HRAS KRAS NRAS
6 intermediate filament cytoskeleton organization GO:0045104 9.54 KRT16 KRT74
7 regulation of long-term neuronal synaptic plasticity GO:0048169 9.52 HRAS KRAS
8 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.5 HRAS KRAS NRAS
9 striated muscle cell differentiation GO:0051146 9.48 IGF2 KRAS
10 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.43 FGF23 FGFR3 PIK3CA
11 response to isolation stress GO:0035900 9.37 HRAS KRAS
12 positive regulation of protein kinase B signaling GO:0051897 9.26 FGF23 FGFR3 IGF2 PIK3CA
13 insulin receptor signaling pathway via phosphatidylinositol 3-kinase GO:0038028 9.16 IGF2 PIK3CA
14 MAPK cascade GO:0000165 9.02 FGF23 FGFR3 HRAS KRAS NRAS

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.33 FGF23 FGFR3 PIK3CA
2 1-phosphatidylinositol-3-kinase activity GO:0016303 9.13 FGF23 FGFR3 PIK3CA
3 nucleotide binding GO:0000166 9.02 AKT3 FGFR3 HRAS KRAS NRAS

Sources for Nevus, Epidermal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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