MCID: NVS017
MIFTS: 66

Nevus, Epidermal

Categories: Genetic diseases, Rare diseases, Eye 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
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 melanocytic nevus syndrome, congenital 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 Signaling by GPCR and Innate Immune System. The drugs Mitogens and Antibodies 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

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.

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.

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.

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

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 124)
# Related Disease Score Top Affiliating Genes
1 melanocytic nevus syndrome, congenital 32.8 HRAS NRAS
2 epidermolytic nevus 31.9 FGFR3 NRAS
3 squamous cell carcinoma 27.7 FGFR3 HRAS KRAS PIK3CA
4 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 12.1
5 woolly hair syndrome 11.6
6 phakomatosis pigmentokeratotica 11.5
7 mosaic trisomy 22 10.9
8 sigmoid neoplasm 10.5 HRAS KRAS
9 periampullary adenoma 10.5 HRAS KRAS
10 paronychia 10.5 HRAS KRAS
11 bile duct cysts 10.5 HRAS KRAS
12 secondary hypertrophic osteoarthropathy 10.5 HRAS KRAS
13 nasal cavity adenocarcinoma 10.5 HRAS KRAS
14 anal canal adenocarcinoma 10.5 HRAS KRAS
15 ovary serous adenocarcinoma 10.5 HRAS KRAS
16 ampulla of vater neoplasm 10.5 HRAS KRAS
17 ovarian cystadenocarcinoma 10.5 HRAS KRAS
18 biliary papillomatosis 10.4 HRAS KRAS
19 colloid carcinoma of the pancreas 10.4 HRAS KRAS
20 mixed cell type cancer 10.4 HRAS KRAS
21 ovary adenocarcinoma 10.4 HRAS KRAS
22 adenosquamous pancreas carcinoma 10.4 HRAS KRAS
23 biliary tract neoplasm 10.4 HRAS KRAS
24 duodenum cancer 10.4 HRAS KRAS
25 lacrimal gland adenocarcinoma 10.4 HRAS KRAS
26 cecum adenocarcinoma 10.4 HRAS KRAS
27 giant congenital nevus 10.4 HRAS NRAS
28 pulmonic stenosis 10.4 HRAS KRAS
29 costello syndrome 10.4 HRAS KRAS
30 bile duct adenocarcinoma 10.4 HRAS KRAS
31 benign struma ovarii 10.4 HRAS NRAS
32 ovarian melanoma 10.4 HRAS NRAS
33 malignant conjunctival melanoma 10.4 HRAS NRAS
34 melanomatosis 10.4 HRAS NRAS
35 marcus gunn phenomenon 10.3 HRAS NRAS
36 ras-associated autoimmune leukoproliferative disorder 10.3 KRAS NRAS
37 malignant struma ovarii 10.3 HRAS NRAS
38 gastrointestinal system benign neoplasm 10.3 HRAS KRAS
39 myelodysplastic myeloproliferative cancer 10.3 HRAS NRAS
40 meningeal melanomatosis 10.3 HRAS NRAS
41 exanthem 10.3 HRAS KRAS
42 vulvar melanoma 10.3 HRAS NRAS
43 intestinal benign neoplasm 10.3 HRAS KRAS
44 lung benign neoplasm 10.3 HRAS KRAS
45 malignant skin fibrous histiocytoma 10.3 HRAS NRAS
46 malignant dermis tumor 10.3 HRAS NRAS
47 central nervous system melanocytic neoplasm 10.2 HRAS NRAS
48 cardiofaciocutaneous syndrome 1 10.2 HRAS KRAS
49 rare adenocarcinoma of the breast 10.1 KRAS PIK3CA
50 integumentary system cancer 10.1 HRAS NRAS

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 27)
# 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 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 10.52 PIK3CA HRAS KRAS
2 Decreased viability GR00106-A-0 10.52 KRAS
3 Decreased viability GR00221-A-1 10.52 PIK3CA NRAS FGFR3 KRAS HRAS
4 Decreased viability GR00221-A-2 10.52 PIK3CA KRAS FGFR3 HRAS
5 Decreased viability GR00221-A-3 10.52 NRAS FGFR3 HRAS
6 Decreased viability GR00221-A-4 10.52 PIK3CA
7 Decreased viability GR00301-A 10.52 KRAS
8 Decreased viability GR00381-A-1 10.52 KRAS
9 Decreased viability GR00402-S-2 10.52 PIK3CA NRAS FGFR3 HRAS KRAS
10 Decreased cell migration GR00055-A-1 9.46 PIK3CA KRAS HRAS FGFR3
11 Increased cell migration GR00055-A-3 8.8 PIK3CA KRAS HRAS

MGI Mouse Phenotypes related to Nevus, Epidermal:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.93 PIK3CA KRAS FGFR3 NRAS HRAS FGF23
2 cardiovascular system MP:0005385 9.92 NRAS PIK3CA FGF23 KRAS HRAS
3 homeostasis/metabolism MP:0005376 9.91 PIK3CA KRAS FGFR3 NRAS HRAS FGF23
4 digestive/alimentary MP:0005381 9.89 KRAS FGFR3 NRAS HRAS FGF23
5 endocrine/exocrine gland MP:0005379 9.88 PIK3CA KRAS NRAS HRAS FGF23
6 integument MP:0010771 9.88 PIK3CA FGFR3 NRAS HRAS FGF23 KRAS
7 craniofacial MP:0005382 9.81 NRAS KRAS FGFR3 HRAS
8 mortality/aging MP:0010768 9.8 PIK3CA KRAS FGFR3 NRAS HRAS FGF23
9 limbs/digits/tail MP:0005371 9.67 KRAS FGFR3 NRAS FGF23
10 neoplasm MP:0002006 9.65 PIK3CA FGFR3 NRAS HRAS KRAS
11 no phenotypic analysis MP:0003012 9.55 PIK3CA FGFR3 NRAS HRAS KRAS
12 renal/urinary system MP:0005367 9.26 FGF23 KRAS FGFR3 HRAS
13 skeleton MP:0005390 9.1 PIK3CA FGFR3 NRAS HRAS FGF23 KRAS

Drugs & Therapeutics for Nevus, Epidermal

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mitogens Phase 2
2 Antibodies Phase 2
3 Antibodies, Monoclonal Phase 2
4 Immunoglobulin G Phase 2
5 Immunoglobulins Phase 2
6 Endothelial Growth Factors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2 KRN23
2 Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS) Active, not recruiting NCT02304367 Phase 2 KRN23
3 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
4 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
5 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, Endothelial

Publications for Nevus, Epidermal

Articles related to Nevus, Epidermal:

(show top 50) (show all 341)
# 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
A Case of Cap Polyposis with Epidermal Nevus in an Infant. ( 28378565 )
2017
5
Dermoscopy of linear dermatosis along Blaschko's line in childhood: Lichen striatus versus inflammatory linear verrucous epidermal nevus. ( 28925078 )
2017
6
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
7
Inflammatory linear verrucous epidermal nevus: an unusual manifestation. ( 26426377 )
2017
8
Inflammatory linear verrucous epidermal nevus with a postzygotic GJA1 mutation is a mosaic erythrokeratodermia variabilis et progressiva. ( 27890787 )
2016
9
Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome. ( 27502266 )
2016
10
Two cases of agminated keratinocytic epidermal nevus resembling segmentally arranged seborrheic keratosis. ( 27154009 )
2016
11
Precocious puberty in a 3-year-old child with systematized verrucous epidermal nevus. ( 25751347 )
2015
12
Eruptive Syringocystadenoma Papilliferum, Keratoacanthoma, and Verruca Vulgaris in a Keratinocytic Epidermal Nevus on the Leg. ( 26790513 )
2015
13
Inflammatory linear verrucous epidermal nevus and regional odontodysplasia: A rare sorority. ( 26752881 )
2015
14
Genital/Perigenital Inflammatory Linear Verrucous Epidermal Nevus: A Case Series. ( 26677274 )
2015
15
Woolly Hair with Systematized Epidermal Nevus. ( 26538742 )
2015
16
Nd:YAG Q-switched laser for the treatment of a hemicorporal epidermal nevus: A safe and effective option. ( 25803678 )
2015
17
Multifocal basal cell carcinoma arising within a linear epidermal nevus. ( 25657916 )
2015
18
A Case of Inflammatory Linear Verrucous Epidermal Nevus on the Upper Eyelid. ( 26120188 )
2015
19
Basal cell carcinoma arising on a verrucous epidermal nevus: a case report. ( 25848348 )
2015
20
Systematised epidermal nevus - a case report. ( 25859506 )
2015
21
Familial papular epidermal nevus with &amp;quot;skyline&amp;quot; Basal cell layer. ( 24274825 )
2014
22
Linear non-epidermolytic verrucous epidermal nevus. ( 25031152 )
2014
23
Epidermal nevus syndrome and dysplatic kidney disease. ( 25149892 )
2014
24
Postzygotic HRAS Mutation Causing Both Keratinocytic Epidermal Nevus and Thymoma and Associated With Bone Dysplasia and Hypophosphatemia Due to Elevated FGF23. ( 24243633 )
2014
25
Inflammatory linear verrucous epidermal nevus with psoriasiform histology. ( 24700964 )
2014
26
Garcia-Hafner-Happle syndrome: A case report and review of a rare sub-type of epidermal nevus syndrome. ( 24891911 )
2014
27
Congenital epidermal nevus. ( 25206237 )
2014
28
Nevoid hypertrichosis, diffuse lipoatrophy and epidermal nevus: a new syndrome? ( 23452296 )
2014
29
A novel technique used in the treatment of inflammatory linear verrucous epidermal nevus: tangential excision. ( 25192746 )
2014
30
Porokeratotic eccrine ostial and dermal duct nevus with linear verrucous epidermal nevus: an unusual association. ( 24877174 )
2014
31
Eccrine poroma and eccrine porocarcinoma in linear epidermal nevus. ( 24803063 )
2014
32
An atypical variant of phacomatosis pigmentokeratotica: verrucous epidermal nevus, speckled lentiginous nevus, and Spitz nevus associated with scoliosis. ( 24877171 )
2014
33
Vascular manifestations and post-treatment changes of epidermal nevus syndrome. ( 24757097 )
2014
34
The challenge to diagnose a clinical case of inflammatory linear verrucous epidermal nevus: is there any ILVEN associated with human papillomavirus infection? ( 25467274 )
2014
35
Late onset epidermal nevus with hypertrichosis and facial hemihypertrophy. ( 24700959 )
2014
36
Inflammatory linear verrucous epidermal nevus: why a combined laser therapy. ( 23692514 )
2013
37
Inflammatory linear verrucous epidermal nevus in perineum and vulva: a report of two rare cases. ( 23716825 )
2013
38
Epidermal nevus syndrome: epithelial and cutaneous tumours without systemic disorders: a case report. ( 24353804 )
2013
39
Angora hair nevus. A further case of an unusual epidermal nevus representing a hallmark of angora hair nevus syndrome. ( 23858341 )
2013
40
Verrucous epidermal nevus. ( 24364998 )
2013
41
Papular epidermal nevus with &amp;quot;skyline&amp;quot; basal cell layer (PENS) with extracutaneous findings. ( 22985090 )
2013
42
Involucrin in the differential diagnosis between linear psoriasis and inflammatory linear verrucous epidermal nevus: a report of one case. ( 24068133 )
2013
43
Papular epidermal nevus with &amp;quot;skyline&amp;quot; basal cell layer (PENS) following a Blaschko linear pattern. ( 23600737 )
2013
44
Vulvar and perianal condyloma superimposed inflammatory linear verrucous epidermal nevus: a case report and review of the literature. ( 24396613 )
2013
45
Inflammatory linear verrucous epidermal nevus. ( 24640220 )
2013
46
Inflammatory linear verrucous epidermal nevus and epilepsy: remission during valproic acid therapy. ( 23377323 )
2013
47
A diagnostic dilemma: inflammatory linear verrucous epidermal nevus versus linear psoriasis. ( 23149170 )
2013
48
Is it inflammatory linear verrucous epidermal nevus or linear psoriasis? ( 23652072 )
2013
49
Intraoral manifestations in a patient with epidermal nevus syndrome. ( 24309363 )
2013
50
Epidermal nevus syndrome with hypophosphatemic rickets in a young girl. ( 24372733 )
2013

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 28)
# 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 HRAS NM_005343.3(HRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
4 HRAS NM_005343.3(HRAS): c.35G> T (p.Gly12Val) single nucleotide variant Pathogenic rs104894230 GRCh38 Chromosome 11, 534288: 534288
5 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
6 HRAS NM_005343.3(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
7 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
8 HRAS NM_005343.3(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
9 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh38 Chromosome 3, 179218304: 179218304
10 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
11 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
12 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
13 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
14 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh38 Chromosome 4, 1804392: 1804392
15 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
16 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh38 Chromosome 4, 1801837: 1801837
17 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic rs121913479 GRCh37 Chromosome 4, 1806089: 1806089
18 FGFR3 NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys) single nucleotide variant Pathogenic rs121913479 GRCh38 Chromosome 4, 1804362: 1804362
19 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh37 Chromosome 11, 534286: 534286
20 HRAS NM_005343.3(HRAS): c.37G> C (p.Gly13Arg) single nucleotide variant Pathogenic/Likely pathogenic rs104894228 GRCh38 Chromosome 11, 534286: 534286
21 NRAS NM_002524.4(NRAS): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs397514553 GRCh37 Chromosome 1, 115258681: 115258681
22 NRAS NM_002524.4(NRAS): c.101C> T (p.Pro34Leu) single nucleotide variant Pathogenic rs397514553 GRCh38 Chromosome 1, 114716060: 114716060
23 NRAS NM_002524.4(NRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913237 GRCh37 Chromosome 1, 115258747: 115258747
24 NRAS NM_002524.4(NRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913237 GRCh38 Chromosome 1, 114716126: 114716126
25 HRAS NM_005343.3(HRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Likely pathogenic rs121913233 GRCh38 Chromosome 11, 533874: 533874
26 HRAS NM_005343.3(HRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Likely pathogenic rs121913233 GRCh37 Chromosome 11, 533874: 533874
27 COL7A1 NM_000094.3(COL7A1): c.1442G> A (p.Arg481His) single nucleotide variant Likely pathogenic rs147040026 GRCh38 Chromosome 3, 48591738: 48591738
28 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 141)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
2
Show member pathways
13.86 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
3
Show member pathways
13.6 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
4
Show member pathways
13.57 FGF23 FGFR3 HRAS KRAS NRAS
5
Show member pathways
13.44 FGF23 FGFR3 HRAS KRAS NRAS
6
Show member pathways
13.42 FGF23 FGFR3 HRAS KRAS NRAS
7
Show member pathways
13.41 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
8
Show member pathways
13.37 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
9
Show member pathways
13.32 FGF23 FGFR3 HRAS KRAS NRAS
10
Show member pathways
13.27 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
11
Show member pathways
13.25 FGF23 FGFR3 HRAS KRAS NRAS
12
Show member pathways
13.23 FGF23 FGFR3 HRAS KRAS NRAS
13
Show member pathways
13.21 FGF23 FGFR3 HRAS KRAS NRAS
14
Show member pathways
13.18 HRAS KRAS NRAS PIK3CA
15
Show member pathways
13.03 FGF23 FGFR3 HRAS KRAS NRAS
16
Show member pathways
13.01 FGF23 FGFR3 HRAS KRAS NRAS
17
Show member pathways
12.96 HRAS KRAS NRAS PIK3CA
18
Show member pathways
12.88 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
19
Show member pathways
12.86 HRAS KRAS NRAS PIK3CA
20
Show member pathways
12.85 HRAS KRAS NRAS PIK3CA
21
Show member pathways
12.85 HRAS KRAS NRAS PIK3CA
22
Show member pathways
12.85 FGFR3 HRAS KRAS NRAS PIK3CA
23
Show member pathways
12.84 HRAS KRAS NRAS PIK3CA
24
Show member pathways
12.83 HRAS KRAS NRAS PIK3CA
25
Show member pathways
12.8 HRAS KRAS NRAS PIK3CA
26
Show member pathways
12.77 HRAS KRAS NRAS PIK3CA
27
Show member pathways
12.77 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
28 12.73 FGF23 FGFR3 HRAS KRAS NRAS
29
Show member pathways
12.73 FGF23 HRAS KRAS NRAS PIK3CA
30 12.73 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
31
Show member pathways
12.7 HRAS KRAS NRAS PIK3CA
32
Show member pathways
12.68 HRAS KRAS NRAS
33
Show member pathways
12.67 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
34
Show member pathways
12.65 HRAS KRAS NRAS PIK3CA
35
Show member pathways
12.62 HRAS KRAS NRAS
36
Show member pathways
12.6 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
37
Show member pathways
12.59 HRAS KRAS NRAS PIK3CA
38
Show member pathways
12.59 HRAS KRAS NRAS PIK3CA
39
Show member pathways
12.58 HRAS KRAS NRAS
40
Show member pathways
12.57 HRAS KRAS NRAS
41
Show member pathways
12.57 HRAS KRAS NRAS PIK3CA
42
Show member pathways
12.57 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
43
Show member pathways
12.54 HRAS KRAS NRAS PIK3CA
44
Show member pathways
12.52 HRAS KRAS NRAS PIK3CA
45
Show member pathways
12.5 HRAS KRAS NRAS PIK3CA
46
Show member pathways
12.49 HRAS KRAS NRAS PIK3CA
47 12.48 FGFR3 HRAS KRAS NRAS PIK3CA
48
Show member pathways
12.46 FGFR3 HRAS KRAS NRAS PIK3CA
49
Show member pathways
12.45 HRAS KRAS NRAS PIK3CA
50 12.44 HRAS KRAS NRAS PIK3CA

GO Terms for Nevus, Epidermal

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.72 FGF23 FGFR3 HRAS
2 positive regulation of protein kinase B signaling GO:0051897 9.7 FGF23 FGFR3 PIK3CA
3 negative regulation of neuron apoptotic process GO:0043524 9.69 HRAS KRAS PIK3CA
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.67 HRAS KRAS NRAS
5 leukocyte migration GO:0050900 9.67 HRAS KRAS NRAS PIK3CA
6 phosphatidylinositol phosphorylation GO:0046854 9.65 FGF23 FGFR3 PIK3CA
7 axon guidance GO:0007411 9.62 HRAS KRAS NRAS PIK3CA
8 Ras protein signal transduction GO:0007265 9.61 HRAS KRAS NRAS
9 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.58 FGF23 FGFR3 PIK3CA
10 positive regulation of MAP kinase activity GO:0043406 9.56 HRAS KRAS
11 Fc-epsilon receptor signaling pathway GO:0038095 9.56 HRAS KRAS NRAS PIK3CA
12 MAPK cascade GO:0000165 9.55 FGF23 FGFR3 HRAS KRAS NRAS
13 regulation of long-term neuronal synaptic plasticity GO:0048169 9.54 HRAS KRAS
14 response to isolation stress GO:0035900 9.46 HRAS KRAS
15 epidermal growth factor receptor signaling pathway GO:0007173 9.26 HRAS KRAS NRAS PIK3CA
16 ERBB2 signaling pathway GO:0038128 8.92 HRAS KRAS NRAS PIK3CA

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

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.5 HRAS KRAS NRAS
2 nucleotide binding GO:0000166 9.46 FGFR3 HRAS KRAS NRAS
3 GTPase activity GO:0003924 9.43 HRAS KRAS NRAS
4 GDP binding GO:0019003 9.37 HRAS KRAS
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 FGF23 FGFR3 PIK3CA
6 1-phosphatidylinositol-3-kinase activity GO:0016303 8.8 FGF23 FGFR3 PIK3CA

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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