KNEN
MCID: NVS017
MIFTS: 66

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 39 70
Epidermal Nevus 12 20 43 29 6 15
Epidermal Nevus Syndrome 58 29 54 6
Epidermal Nevus, Somatic 57 13
Woolly Hair Nevus 58 70
Nevus Sebaceous or Woolly Hair Nevus, Somatic 57
Nevus, Keratinocytic, Nonepidermolytic 57
Keratinocytic Non-Epidermolytic Nevus 72
Nonepidermolytic Keratinocytic Nevus 12
Epidermal Hamartoma Syndrome 58
Organoid Nevus Phakomatosis 70
Nevus, Epidermal, Somatic 57
Melanocytic Nevus of Skin 70
Nevus, Woolly Hair 6
Melanocytic Nevus 70
Epidermal Naevus 43
Wooly Hair Nevus 58
Pigmented Moles 72
Nevus Sebaceous 70
Knen 72

Characteristics:

Orphanet epidemiological data:

58
epidermal nevus syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;
woolly hair nevus
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
somatic mutation


HPO:

31
nevus, epidermal:
Inheritance somatic mosaicism


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0111162
OMIM® 57 162900
MESH via Orphanet 45 C536114 D054000
ICD10 via Orphanet 33 D23.4 Q85.8
UMLS via Orphanet 71 C0334082 C0343114
UMLS 70 C0027962 C0265329 C0334082 more

Summaries for Nevus, Epidermal

MedlinePlus Genetics : 43 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.There are several types of epidermal nevus that are defined in part by the type of epidermal cell involved. The epidermis is composed primarily of a specific cell type called a keratinocyte. One group of epidermal nevi, called keratinocytic or nonorganoid epidermal nevi, includes nevi that involve only keratinocytes. Keratinocytic epidermal nevi are typically found on the torso or limbs. They can be flat, tan or brown patches of skin or raised, velvety patches. As affected individuals age, the nevi can become thicker and darker and develop a wart-like (verrucous) appearance. Often, keratinocytic epidermal nevi follow a pattern on the skin known as the lines of Blaschko. The lines of Blaschko, which are normally invisible on skin, are thought to follow the paths along which cells migrate as the skin develops before birth. Keratinocytic epidermal nevi are also known as linear epidermal nevi or verrucous epidermal nevi, based on characteristics of their appearance.Other types of epidermal nevi involve additional types of epidermal cells, such as the cells that make up the hair follicles, the sweat glands, or the sebaceous glands (glands in the skin that produce a substance that protects the skin and hair). These nevi comprise a group called organoid epidermal nevi. A common type of organoid epidermal nevus is called nevus sebaceous. Nevi in this group are waxy, yellow-orange patches of skin, usually on the scalp or face. The patch is typically hairless, leaving a distinct region of baldness (alopecia). Similar to keratinocytic epidermal nevi, nevi sebaceous can become thicker and more verrucous over time. In about one-quarter of people with a nevus sebaceous, a tumor forms in the same region as the nevus. The tumor is usually benign, although rarely cancerous (malignant) tumors develop.Some affected individuals have only an epidermal nevus and no other abnormalities. However, sometimes people with an epidermal nevus also have problems in other body systems, such as the brain, eyes, or bones. In these cases, the affected individual has a condition called an epidermal nevus syndrome. There are several different epidermal nevus syndromes characterized by the type of epidermal nevus involved.

MalaCards based summary : Nevus, Epidermal, also known as epidermal nevus, is related to epidermolytic nevus and melanocytic nevus syndrome, congenital, 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 Innate Immune System and ERK Signaling. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and spinal cord, and related phenotypes are nevus and spinal canal stenosis

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

GARD : 20 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.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 422)
# Related Disease Score Top Affiliating Genes
1 epidermolytic nevus 33.0 NRAS FGFR3
2 melanocytic nevus syndrome, congenital 32.7 NRAS LRRC56 HRAS
3 oculoectodermal syndrome 32.3 PIK3CA NRAS KRAS HRAS AKT1
4 hemimegalencephaly 32.3 PTEN PIK3CA AKT3
5 schimmelpenning-feuerstein-mims syndrome 32.1 PIK3CA PHEX NRAS LRRC56 KRAS HRAS
6 proteus syndrome 32.0 PTEN PIK3R2 PIK3CA FGFR3 AKT3 AKT1
7 autosomal dominant epidermolytic ichthyosis 31.2 KRT10 KRT1 COL7A1
8 epidermolytic hyperkeratosis 31.1 KRT10 KRT1 IVL COL7A1
9 keratosis 31.1 PIK3CA KRT10 KRT1 IVL HRAS GJB2
10 hypophosphatemic rickets, x-linked recessive 31.0 PHEX FGF23 ENPP1
11 papilloma 30.9 PTEN KRT10 KRT1 KRAS IVL FGFR3
12 keratosis, seborrheic 30.9 PIK3CA KRT10 IVL FGFR3
13 lipomatosis 30.8 PTEN PIK3CA KRAS
14 clear cell acanthoma 30.7 KRT10 IVL
15 lichen planus 30.7 KRT10 KRT1 IVL
16 hypophosphatemia 30.7 PHEX FGF23 ENPP1
17 apocrine adenoma 30.7 KRAS ERAS
18 arteriovenous malformation 30.7 PTEN LRRC56 KRAS HRAS
19 spitz nevus 30.7 LRRC56 HRAS
20 acanthoma 30.7 PIK3CA KRT10 KRT1 FGFR3
21 pseudo-turner syndrome 30.6 NRAS LRRC56 KRAS HRAS
22 exanthem 30.6 KRAS HRAS AKT1
23 polymicrogyria 30.6 PIK3R2 PIK3CA AKT3
24 porokeratosis 30.6 KRT1 IVL GJB2 FGFR3
25 squamous cell carcinoma 30.5 PTEN PIK3CA IVL HRAS FGFR3 AKT1
26 ichthyosis 30.5 KRT10 KRT1 KRAS IVL GJB2 COL7A1
27 noonan syndrome 1 30.5 NRAS LRRC56 KRAS HRAS GJB2 AKT1
28 osteomalacia 30.5 PHEX FGF23 ENPP1
29 ras-associated autoimmune leukoproliferative disorder 30.4 NRAS KRAS HRAS
30 rhabdomyosarcoma 30.4 PTEN PIK3CA NRAS LRRC56 KRAS HRAS
31 striate palmoplantar keratoderma 30.4 KRT10 KRT1
32 epidermolytic acanthoma 30.4 KRT10 KRT1 IVL
33 cystic teratoma 30.4 PTEN KRT10 KRAS
34 megalencephaly 30.4 PIK3R2 PIK3CA AKT3
35 lymphangioma 30.4 PIK3CA KRAS HRAS
36 hydrocephalus 30.3 PTEN PIK3R2 PIK3CA FGFR3 AKT3
37 cowden syndrome 1 30.3 PTEN PIK3R2 PIK3CA AKT3 AKT1
38 ichthyosis vulgaris 30.3 KRT10 KRT1 IVL
39 thymoma 30.3 LRRC56 HRAS AKT3 AKT1
40 costello syndrome 30.3 PIK3CA LRRC56 KRAS HRAS ERAS
41 palmoplantar keratosis 30.3 KRT10 KRT1 GJB2
42 erythrokeratodermia variabilis et progressiva 1 30.3 KRT10 KRT1 GJB2
43 calcinosis 30.3 PHEX FGF23 ENPP1
44 sarcoma 30.3 PIK3CA NRAS KRAS HRAS FGFR3 AKT1
45 juvenile myelomonocytic leukemia 30.3 PTEN NRAS KRAS HRAS
46 ichthyosis bullosa of siemens 30.2 KRT10 KRT1
47 cowden syndrome 30.1 PTEN PIK3R2 PIK3CA HRAS AKT3 AKT1
48 plasma cell neoplasm 30.1 PIK3R2 PIK3CA NRAS LRRC56 KRAS HRAS
49 bladder urothelial carcinoma 30.0 PTEN PIK3CA NRAS LRRC56 KRAS HRAS
50 skin disease 29.9 NRAS KRT10 KRT1 IVL HRAS GJB2

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:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003764
2 spinal canal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0003416
3 hypopigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0001010
4 spinal cord compression 58 31 frequent (33%) Frequent (79-30%) HP:0002176
5 hyperpigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000953
6 pain 58 31 frequent (33%) Frequent (79-30%) HP:0012531
7 atrophy of the spinal cord 58 31 frequent (33%) Frequent (79-30%) HP:0006827
8 progressive spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0007199
9 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
10 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
11 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
12 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
13 lipoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012032
14 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
15 spinal cord tumor 58 31 occasional (7.5%) Occasional (29-5%) HP:0010302
16 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
17 weakness of long finger extensor muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0009077
18 abnormality of brain morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012443
19 thoracolumbar scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002944
20 osteopenia 58 31 very rare (1%) Very rare (<4-1%) HP:0000938
21 abnormal facial shape 58 31 very rare (1%) Very rare (<4-1%) HP:0001999
22 low levels of vitamin d 58 31 very rare (1%) Very rare (<4-1%) HP:0100512
23 rhabdomyosarcoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002859
24 polycystic kidney dysplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0000113
25 aortic aneurysm 31 very rare (1%) HP:0004942
26 hypertonia 58 Occasional (29-5%)
27 melanocytic nevus 31 HP:0000995
28 aortic dilatation 58 Very rare (<4-1%)
29 numerous nevi 31 HP:0001054

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Nevus, Epidermal:


seizures

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.33 HRAS KRAS PIK3CA
2 Decreased viability GR00055-A-2 10.33 HRAS KRAS PIK3CA
3 Decreased viability GR00055-A-3 10.33 KRAS
4 Decreased viability GR00106-A-0 10.33 KRAS
5 Decreased viability GR00173-A 10.33 PIK3R2
6 Decreased viability GR00221-A-1 10.33 AKT1 AKT3 FGFR3 HRAS NRAS KRAS
7 Decreased viability GR00221-A-2 10.33 AKT1 AKT3 FGFR3 HRAS KRAS PIK3CA
8 Decreased viability GR00221-A-3 10.33 AKT1 AKT3 FGFR3 HRAS NRAS
9 Decreased viability GR00221-A-4 10.33 AKT1 AKT3 PIK3CA PIK3R2
10 Decreased viability GR00249-S 10.33 AKT1 FGFR3 PIK3R2
11 Decreased viability GR00301-A 10.33 AKT3 KRAS PIK3R2
12 Decreased viability GR00381-A-1 10.33 KRAS
13 Decreased viability GR00402-S-2 10.33 PIK3CA
14 Decreased cell migration GR00055-A-1 9.43 AKT1 AKT3 FGFR3 PIK3R2
15 Decreased cell migration GR00055-A-3 9.43 HRAS PIK3CA

MGI Mouse Phenotypes related to Nevus, Epidermal:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 AKT1 AKT3 ENPP1 FGF23 GJB2 HRAS
2 growth/size/body region MP:0005378 10.38 AKT1 AKT3 COL7A1 ENPP1 FGF23 FGFR3
3 homeostasis/metabolism MP:0005376 10.36 AKT1 AKT3 ENPP1 FGF23 FGFR3 GJB2
4 immune system MP:0005387 10.25 AKT1 AKT3 COL7A1 ENPP1 FGF23 FGFR3
5 integument MP:0010771 10.22 AKT1 COL7A1 ENPP1 FGF23 FGFR3 GJB2
6 mortality/aging MP:0010768 10.22 AKT1 AKT3 COL7A1 ENPP1 FGF23 FGFR3
7 endocrine/exocrine gland MP:0005379 10.19 AKT1 AKT3 FGF23 HRAS KRAS NRAS
8 craniofacial MP:0005382 10.13 COL7A1 ENPP1 FGFR3 GJB2 HRAS KRAS
9 digestive/alimentary MP:0005381 10.11 COL7A1 FGF23 FGFR3 HRAS KRAS NRAS
10 limbs/digits/tail MP:0005371 10.07 COL7A1 ENPP1 FGF23 FGFR3 GJB2 KRAS
11 nervous system MP:0003631 9.93 AKT1 AKT3 ENPP1 FGFR3 GJB2 HRAS
12 neoplasm MP:0002006 9.91 AKT1 AKT3 FGFR3 HRAS KRAS NRAS
13 normal MP:0002873 9.61 AKT1 AKT3 COL7A1 FGFR3 GJB2 HRAS
14 skeleton MP:0005390 9.44 AKT1 COL7A1 ENPP1 FGF23 FGFR3 GJB2

Drugs & Therapeutics for Nevus, Epidermal

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 4
2 Antibodies Phase 4
3 Antibodies, Monoclonal Phase 4
4 Mitogens Phase 3
5 Pharmaceutical Solutions Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label Trial to Assess the Safety and Efficacy of KRN23, an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome (ENS) and Associated Hypophosphatemic Rickets Active, not recruiting NCT04320316 Phase 4 Crysvita (burosumab-twza) Treatment
2 An Open Label Trial to Assess the Safety and Efficacy of Burosumab (KRN23), an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome(ENS) and Associated Hypophosphatemic Rickets Completed NCT03581591 Phase 3
3 A Phase 2 Open-Label Trial to Assess the Efficacy and Safety of KRN23, an Antibody to FGF23, in Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)-Associated Osteomalacia Completed NCT02304367 Phase 2
4 A Phase 2 Open-Label Trial to Assess the Efficacy and Safety of KRN23 in Patients With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2 KRN23
5 An Open Label Trial to Assess the Safety and Efficacy of Burosumab in a Single Patient With Cutaneous Skeletal Hypophosphatemia Syndrome (CSHS) Active, not recruiting NCT03993821 Early Phase 1 Burosumab
6 Spectral Comparison Between Spatially Modulated Quantitative Spectroscopy and Polarization-Sensitive Hyperspectral Multimode Dermoscopy for the Purpose of Skin Compositional Analysis Withdrawn NCT02473874

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

Anatomical Context for Nevus, Epidermal

MalaCards organs/tissues related to Nevus, Epidermal:

40
Skin, Eye, Spinal Cord, Lung, Thyroid, Kidney, Heart

Publications for Nevus, Epidermal

Articles related to Nevus, Epidermal:

(show top 50) (show all 714)
# Title Authors PMID Year
1
HRAS mutation mosaicism causing urothelial cancer and epidermal nevus. 6 61 57
22087699 2011
2
Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. 61 6 57
20805368 2010
3
Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. 57 6
24129065 2014
4
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. 57 6
23096712 2013
5
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 57 6
22683711 2012
6
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 57 6
22499344 2012
7
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 57 6
17673550 2007
8
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 57 6
16841094 2006
9
An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. 61 6
18642369 2008
10
Genetic and clinical mosaicism in a type of epidermal nevus. 61 57
7526210 1994
11
The twisting tale of woolly hair: a trait with many causes. 57
25561463 2015
12
Activating HRAS mutation in nevus spilus. 6
24390138 2014
13
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 6
24006476 2014
14
Oncogenic Nras has bimodal effects on stem cells that sustainably increase competitiveness. 6
24284627 2013
15
Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus. 6
23884457 2013
16
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 6
23392294 2013
17
Mosaic activating RAS mutations in nevus sebaceus and nevus sebaceus syndrome. 57
23096709 2013
18
FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. 6
21324899 2011
19
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. 6
21079152 2011
20
Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. 6
20949522 2010
21
Physical basis behind achondroplasia, the most common form of human dwarfism. 6
20624921 2010
22
Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D. 6
18642361 2009
23
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. 6
18633438 2009
24
Severe neonatal manifestations of Costello syndrome. 6
18039947 2008
25
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs. 6
18266238 2008
26
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation. 6
17412879 2007
27
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 6
17332249 2007
28
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 6
17054105 2007
29
Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. 6
16766665 2006
30
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 6
16443854 2006
31
Germline mutations in HRAS proto-oncogene cause Costello syndrome. 6
16170316 2005
32
Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 6
15772091 2005
33
Mutation of the PIK3CA gene in ovarian and breast cancer. 6
15520168 2004
34
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. 6
15517832 2004
35
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. 6
12833394 2003
36
RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. 6
12727991 2003
37
Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets. 6
12835555 2003
38
Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14). 6
11529856 2001
39
Myopathy with muscle spindle excess: A new congenital neuromuscular syndrome? 6
11150980 2001
40
Germline and somatic mosaicism in achondroplasia. 6
11186939 2000
41
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father. 6
11186940 2000
42
Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. 6
11030304 2000
43
Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. 6
10073901 1999
44
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. 6
9677066 1998
45
Myopathology in patients with a Noonan phenotype. 6
8960317 1996
46
Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene. 6
8858131 1996
47
Exclusive paternal origin of new mutations in Apert syndrome. 6
8673103 1996
48
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). 6
8845844 1996
49
Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. 6
7649548 1995
50
Clinicopathologic significance of the K-ras gene codon 12 point mutation in stomach cancer. An analysis of 140 cases. 6
7773929 1995

Variations for Nevus, Epidermal

ClinVar genetic disease variations for Nevus, Epidermal:

6 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR3 NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) SNV Pathogenic 16359 rs121913479 GRCh37: 4:1806089-1806089
GRCh38: 4:1804362-1804362
2 PIK3CA NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) SNV Pathogenic 13656 rs121913274 GRCh37: 3:178936092-178936092
GRCh38: 3:179218304-179218304
3 HRAS , LRRC56 NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 12612 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
4 HRAS , LRRC56 NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Pathogenic 12613 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
5 HRAS , LRRC56 NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic 35554 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
6 HRAS , LRRC56 NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic 35554 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
7 KRAS NM_004985.5(KRAS):c.35G>T (p.Gly12Val) SNV Pathogenic 12583 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
8 NRAS NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) SNV Pathogenic 39647 rs397514553 GRCh37: 1:115258681-115258681
GRCh38: 1:114716060-114716060
9 NRAS NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 39648 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
10 HRAS , LRRC56 NM_005343.4(HRAS):c.35G>T (p.Gly12Val) SNV Pathogenic 12600 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
11 HRAS , LRRC56 NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Pathogenic 12613 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
12 HRAS , LRRC56 NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic 35554 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
13 HRAS , LRRC56 NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic 160364 rs121913233 GRCh37: 11:533874-533874
GRCh38: 11:533874-533874
14 HRAS , LRRC56 NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) SNV Pathogenic 12603 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
15 HRAS , LRRC56 NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Pathogenic 12613 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
16 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic 16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
17 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic 65855 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
18 PIK3CA NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) SNV Pathogenic 39705 rs121913281 GRCh37: 3:178952084-178952084
GRCh38: 3:179234296-179234296
19 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 12582 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
20 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 12582 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
21 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic 12582 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
22 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic 16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
23 FGFR3 NM_000142.5(FGFR3):c.1138G>A SNV Pathogenic 16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
24 HRAS , LRRC56 NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic 12602 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
25 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic 13900 rs11554290 GRCh37: 1:115256529-115256529
GRCh38: 1:114713908-114713908
26 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic 13900 rs11554290 GRCh37: 1:115256529-115256529
GRCh38: 1:114713908-114713908
27 HRAS , LRRC56 NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic 12602 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
28 HRAS , LRRC56 NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) SNV Pathogenic 12606 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
29 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic 16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
30 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
31 FGFR3 NM_000142.5(FGFR3):c.1138G>A SNV Pathogenic 16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
32 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic 16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
33 KRAS NM_004985.5(KRAS):c.458A>T (p.Asp153Val) SNV Pathogenic 12587 rs104894360 GRCh37: 12:25362838-25362838
GRCh38: 12:25209904-25209904
34 COL7A1 NM_000094.3(COL7A1):c.1442G>A (p.Arg481His) SNV Likely pathogenic 373954 rs147040026 GRCh37: 3:48629171-48629171
GRCh38: 3:48591738-48591738
35 KRAS NM_033360.4(KRAS):c.64C>A (p.Gln22Lys) SNV Likely pathogenic 376325 rs121913236 GRCh37: 12:25398255-25398255
GRCh38: 12:25245321-25245321
36 PIK3CA NM_006218.4(PIK3CA):c.1A>G (p.Met1Val) SNV Uncertain significance 844646 GRCh37: 3:178916614-178916614
GRCh38: 3:179198826-179198826
37 PIK3CA NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) SNV Uncertain significance 526641 rs755969956 GRCh37: 3:178917561-178917561
GRCh38: 3:179199773-179199773
38 PIK3CA NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) SNV Uncertain significance 403909 rs113613074 GRCh37: 3:178922361-178922361
GRCh38: 3:179204573-179204573
39 FGFR3 NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain significance 546226 rs369232922 GRCh37: 4:1801071-1801071
GRCh38: 4:1799344-1799344
40 FGFR3 NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) SNV Uncertain significance 465350 rs764892330 GRCh37: 4:1808017-1808017
GRCh38: 4:1806290-1806290
41 FGFR3 NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV Uncertain significance 521225 rs139773438 GRCh37: 4:1808395-1808395
GRCh38: 4:1806668-1806668
42 KRAS NM_033360.4(KRAS):c.112-5C>T SNV Uncertain significance 626130 rs376520586 GRCh37: 12:25380351-25380351
GRCh38: 12:25227417-25227417
43 HRAS , LRRC56 NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) SNV Likely benign 40448 rs397517144 GRCh37: 11:532686-532686
GRCh38: 11:532686-532686

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

72
# 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

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 197)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.17 PTEN PIK3R2 PIK3CA NRAS KRT1 KRAS
2
Show member pathways
13.99 PTEN PIK3R2 NRAS KRAS HRAS FGFR3
3
Show member pathways
13.97 PTEN PIK3R2 NRAS KRAS HRAS FGFR3
4
Show member pathways
13.85 PIK3R2 PIK3CA NRAS KRAS HRAS FGFR3
5
Show member pathways
13.7 PIK3R2 PIK3CA NRAS KRAS HRAS FGFR3
6
Show member pathways
13.7 PIK3R2 PIK3CA NRAS KRT10 KRT1 KRAS
7
Show member pathways
13.69 PIK3R2 NRAS KRAS HRAS FGFR3 FGF23
8
Show member pathways
13.64 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
9
Show member pathways
13.59 PTEN PIK3R2 NRAS KRAS HRAS FGFR3
10
Show member pathways
13.57 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
11
Show member pathways
13.55 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
12
Show member pathways
13.52 PIK3R2 PIK3CA NRAS KRAS HRAS FGFR3
13
Show member pathways
13.49 PTEN PIK3R2 NRAS KRAS HRAS FGFR3
14
Show member pathways
13.49 PTEN PIK3R2 NRAS KRAS HRAS FGFR3
15
Show member pathways
13.45 PIK3R2 PIK3CA NRAS KRAS HRAS AKT3
16
Show member pathways
13.42 PIK3R2 NRAS KRAS HRAS FGFR3 FGF23
17
Show member pathways
13.36 PIK3R2 PIK3CA NRAS KRAS HRAS AKT3
18
Show member pathways
13.28 PTEN PIK3R2 PIK3CA FGFR3 FGF23 AKT3
19
Show member pathways
13.28 PTEN PIK3R2 NRAS KRAS HRAS FGFR3
20
Show member pathways
13.27 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
21
Show member pathways
13.23 PIK3R2 NRAS KRAS HRAS FGFR3 FGF23
22
Show member pathways
13.2 PIK3R2 PIK3CA NRAS KRAS HRAS AKT3
23
Show member pathways
13.2 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
24
Show member pathways
13.15 PIK3R2 NRAS KRAS HRAS AKT3 AKT1
25
Show member pathways
13.13 PIK3R2 PIK3CA NRAS KRAS HRAS AKT3
26
Show member pathways
13.12 PTEN PIK3R2 NRAS KRAS HRAS AKT3
27
Show member pathways
13.1 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
28
Show member pathways
13.09 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
29
Show member pathways
13.08 PIK3R2 PIK3CA NRAS KRAS HRAS AKT3
30
Show member pathways
13.06 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
31
Show member pathways
13.05 PIK3R2 PIK3CA NRAS KRAS HRAS AKT3
32 13.03 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
33
Show member pathways
13.02 PIK3CA NRAS KRAS HRAS FGFR3 FGF23
34
Show member pathways
13.01 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
35
Show member pathways
13 PTEN PIK3R2 NRAS KRAS HRAS AKT3
36
Show member pathways
12.99 PTEN PIK3R2 NRAS KRAS HRAS AKT1
37
Show member pathways
12.99 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
38
Show member pathways
12.98 PTEN PIK3R2 PIK3CA KRAS HRAS AKT3
39 12.97 NRAS KRAS HRAS FGFR3 FGF23 AKT3
40
Show member pathways
12.95 PIK3R2 PIK3CA NRAS KRAS HRAS FGFR3
41
Show member pathways
12.94 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
42
Show member pathways
12.93 PIK3R2 NRAS KRAS HRAS AKT1
43
Show member pathways
12.91 PIK3R2 PIK3CA NRAS KRAS HRAS AKT3
44
Show member pathways
12.91 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
45
Show member pathways
12.89 PIK3R2 NRAS KRT1 KRAS IVL HRAS
46
Show member pathways
12.88 PTEN PIK3R2 PIK3CA NRAS KRAS HRAS
47
Show member pathways
12.87 PIK3R2 NRAS KRAS HRAS AKT3 AKT1
48
Show member pathways
12.87 PIK3R2 PIK3CA NRAS KRAS HRAS AKT3
49
Show member pathways
12.86 PIK3R2 NRAS KRAS HRAS AKT3 AKT1
50 12.85 PIK3R2 PIK3CA NRAS KRAS HRAS FGFR3

GO Terms for Nevus, Epidermal

Cellular components related to Nevus, Epidermal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 8.8 KRT10 KRT1 IVL

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10 PTEN KRAS HRAS FGF23 AKT1
2 positive regulation of cell proliferation GO:0008284 9.91 PTEN KRAS HRAS FGFR3 FGF23 AKT1
3 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.84 PTEN HRAS FGFR3 FGF23
4 positive regulation of protein phosphorylation GO:0001934 9.81 KRAS HRAS FGF23 AKT1
5 positive regulation of protein kinase B signaling GO:0051897 9.8 PIK3R2 PIK3CA FGFR3 FGF23
6 liver development GO:0001889 9.79 PIK3CA KRAS HRAS
7 phosphatidylinositol biosynthetic process GO:0006661 9.77 PTEN PIK3R2 PIK3CA
8 positive regulation of endothelial cell proliferation GO:0001938 9.74 NRAS AKT3 AKT1
9 MAPK cascade GO:0000165 9.72 NRAS KRAS HRAS FGFR3 FGF23
10 protein kinase B signaling GO:0043491 9.63 PTEN PIK3CA AKT1
11 anoikis GO:0043276 9.6 PIK3CA AKT1
12 negative regulation of cell size GO:0045792 9.58 PTEN AKT1
13 cellular response to leptin stimulus GO:0044320 9.58 PTEN FGF23
14 cellular response to parathyroid hormone stimulus GO:0071374 9.56 PHEX FGF23
15 cellular phosphate ion homeostasis GO:0030643 9.55 FGF23 ENPP1
16 response to isolation stress GO:0035900 9.52 KRAS HRAS
17 cellular response to decreased oxygen levels GO:0036294 9.48 PTEN AKT1
18 cellular response to insulin stimulus GO:0032869 9.46 PTEN PIK3R2 ENPP1 AKT1
19 peptide cross-linking GO:0018149 9.43 KRT10 KRT1 IVL
20 response to insulin-like growth factor stimulus GO:1990418 9.4 PHEX AKT1
21 response to sodium phosphate GO:1904383 9.37 PHEX FGF23
22 Ras protein signal transduction GO:0007265 9.26 NRAS KRAS HRAS ERAS
23 phosphatidylinositol 3-kinase signaling GO:0014065 8.92 PTEN PIK3R2 PIK3CA AKT1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.13 PTEN PIK3R2 PIK3CA NSDHL NRAS LRRC56
2 nucleotide binding GO:0000166 9.56 PIK3CA NRAS KRAS HRAS FGFR3 ERAS
3 GDP binding GO:0019003 8.92 NRAS KRAS HRAS ERAS

Sources for Nevus, Epidermal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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