KNEN
MCID: NVS017
MIFTS: 65

Nevus, Epidermal (KNEN)

Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Nevus, Epidermal

MalaCards integrated aliases for Nevus, Epidermal:

Name: Nevus, Epidermal 57 12 38 71
Epidermal Nevus 11 19 42 28 5 43 14
Epidermal Nevus Syndrome 58 53 75
Woolly Hair Nevus 58 5 71
Epidermal Naevus 42 33
Nevus Sebaceous or Woolly Hair Nevus, Somatic 57
Nevus, Keratinocytic, Nonepidermolytic 57
Keratinocytic Non-Epidermolytic Nevus 73
Nonepidermolytic Keratinocytic Nevus 11
Epidermal Hamartoma Syndrome 58
Organoid Nevus Phakomatosis 71
Nevus, Epidermal, Somatic 57
Melanocytic Nevus of Skin 71
Epidermal Nevus, Somatic 57
Melanocytic Nevus 71
Wooly Hair Nevus 58
Pigmented Moles 73
Nevus Sebaceous 71
Knen 73

Characteristics:


Inheritance:

Somatic mutation 57

Age Of Onset:

Epidermal Nevus Syndrome: Infancy,Neonatal 58
Woolly Hair Nevus: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0111162
OMIM® 57 162900
MeSH 43 C580062
MESH via Orphanet 44 C536114 D054000
ICD10 via Orphanet 32 D23.4 Q85.8
UMLS via Orphanet 72 C0334082 C0343114
ICD11 33 770101039
UMLS 71 C0027962 C0265329 C0334082 more

Summaries for Nevus, Epidermal

MedlinePlus Genetics: 42 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 ERK Signaling and Disease. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are nevus and spinal canal stenosis

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 08-Dec-2022)

GARD: 19 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. Genetic changes 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.

Orphanet 58 Epidermal nevus syndrome: Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.

Woolly hair nevus: Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.

Wikipedia: 75 Epidermal nevus syndrome (also known as "Feuerstein and Mims syndrome", and "Solomon's syndrome": 775 )... 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 510)
# Related Disease Score Top Affiliating Genes
1 epidermolytic nevus 33.0 NRAS FGFR3
2 melanocytic nevus syndrome, congenital 32.9 NRAS LRRC56 HRAS
3 hemimegalencephaly 32.4 PTEN PIK3CA AKT3
4 schimmelpenning-feuerstein-mims syndrome 32.2 PIK3CA PHEX NRAS LRRC56 KRAS HRAS
5 cowden syndrome 1 32.1 PTEN PIK3CA HRAS AKT3 AKT1
6 autosomal dominant epidermolytic ichthyosis 31.3 KRT10 KRT1
7 epidermolytic hyperkeratosis 31.0 KRT2 KRT10 KRT1 IVL COL7A1
8 papilloma 31.0 PTEN KRT10 KRT1 KRAS IVL FGFR3
9 neurofibromatosis 30.9 PTEN NRAS KRAS HRAS
10 keratoacanthoma 30.9 PIK3CA KRT10 IVL
11 keratosis, seborrheic 30.9 PIK3CA KRT10 IVL FGFR3
12 lipomatosis 30.9 PTEN PIK3CA KRAS AKT1
13 proteus syndrome 30.8 PTEN PIK3CA HRAS GNAQ FGFR3 AKT3
14 basal cell carcinoma 30.8 PTEN KRT10 KRT1 IVL AKT1
15 lichen planus 30.7 KRT10 KRT1 IVL
16 melanoma in congenital melanocytic nevus 30.7 PTEN NRAS HRAS GNAQ
17 cutaneous-skeletal hypophosphatemia syndrome 30.7 LRRC56 HRAS
18 hemangioma 30.7 PTEN KRAS GNAQ AKT1
19 acanthoma 30.7 PIK3CA KRT10 KRT1 FGFR3
20 lymphangioma 30.7 PIK3CA KRAS HRAS AKT1
21 keratosis 30.6 PIK3CA KRT10 KRT1 IVL HRAS GJB2
22 syringocystadenoma papilliferum 30.6 HRAS ERAS
23 mongolian spot 30.6 GNAQ ERAS
24 wilms tumor 1 30.6 PTEN KRAS HRAS AKT1
25 ichthyosis 30.6 KRT2 KRT10 KRT1 IVL GJB2 COL7A1
26 clear cell acanthoma 30.6 KRT10 IVL
27 neurofibromatosis, type i 30.6 PTEN NRAS KRAS HRAS AKT1
28 exanthem 30.6 KRAS HRAS AKT1
29 cowden syndrome 30.6 PTEN PIK3CA KRAS HRAS AKT3 AKT1
30 large congenital melanocytic nevus 30.5 NRAS LRRC56 HRAS GNAQ
31 porokeratosis 30.5 NSDHL KRT10 KRT1 IVL GJB2 FGFR3
32 melanoma 30.5 PTEN PIK3CA NRAS LRRC56 KRAS HRAS
33 rhabdomyosarcoma 30.4 PTEN PIK3CA NRAS LRRC56 KRAS HRAS
34 ras-associated autoimmune leukoproliferative disorder 30.4 NRAS KRAS HRAS
35 epidermolytic acanthoma 30.4 KRT2 KRT10 KRT1
36 megalencephaly 30.4 PTEN PIK3CA AKT3
37 ichthyosis bullosa of siemens 30.3 KRT2 KRT10 KRT1
38 adenoma 30.3 PIK3CA KRAS HRAS AKT1
39 autosomal recessive congenital ichthyosis 30.3 KRT2 KRT10 KRT1 IVL GJB2
40 melanoma, cutaneous malignant 1 30.3 PTEN NRAS HRAS GNAQ AKT3 AKT1
41 palmoplantar keratosis 30.3 KRT10 KRT1 GJB2
42 squamous cell carcinoma 30.3 PTEN PIK3CA NRAS KRAS IVL HRAS
43 ichthyosis vulgaris 30.3 KRT10 KRT1 IVL
44 erythrokeratodermia variabilis et progressiva 1 30.3 KRT10 KRT1 GJB2
45 bowen's disease 30.3 KRT10 IVL
46 juvenile myelomonocytic leukemia 30.3 NRAS KRAS HRAS AKT1
47 thymoma 30.3 LRRC56 HRAS AKT3 AKT1
48 plasma cell neoplasm 30.2 PIK3CA NRAS LRRC56 KRAS HRAS FGFR3
49 costello syndrome 30.2 PIK3CA NRAS LRRC56 KRAS HRAS ERAS
50 bladder cancer 30.2 PTEN PIK3CA NRAS LRRC56 KRAS HRAS

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 30 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nevus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003764
2 spinal canal stenosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0003416
3 hypopigmentation of the skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0001010
4 spinal cord compression 58 30 Frequent (33%) Frequent (79-30%)
HP:0002176
5 hyperpigmentation of the skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000953
6 pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0012531
7 atrophy of the spinal cord 58 30 Frequent (33%) Frequent (79-30%)
HP:0006827
8 progressive spastic paraparesis 58 30 Frequent (33%) Frequent (79-30%)
HP:0007199
9 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263
10 delayed speech and language development 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000750
11 visual impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000505
12 areflexia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001284
13 lipoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012032
14 babinski sign 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003487
15 spinal cord tumor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010302
16 astigmatism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000483
17 weakness of long finger extensor muscles 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009077
18 abnormality of brain morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012443
19 thoracolumbar scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002944
20 osteopenia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000938
21 abnormal facial shape 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001999
22 low levels of vitamin d 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100512
23 rhabdomyosarcoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002859
24 polycystic kidney dysplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000113
25 aortic aneurysm 30 Very rare (1%) HP:0004942
26 precocious puberty 58 Very rare (<4-1%)
27 hypertonia 58 Occasional (29-5%)
28 melanocytic nevus 30 HP:0000995
29 brachydactyly 58 Occasional (29-5%)
30 fine hair 58 Very frequent (99-80%)
31 heterochromia iridis 58 Occasional (29-5%)
32 enlarged vestibular aqueduct 58 Occasional (29-5%)
33 patchy hypopigmentation of hair 58 Very frequent (99-80%)
34 aortic dilatation 58 Very rare (<4-1%)
35 persistent pupillary membrane 58 Occasional (29-5%)
36 curly hair 58 Very frequent (99-80%)
37 numerous nevi 30 HP:0001054
38 woolly scalp hair 58 Very frequent (99-80%)
39 congenital posterior occipital alopecia 58 Frequent (79-30%)
40 widely-spaced incisors 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Nevus, Epidermal:


seizures

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

25 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.6 HRAS KRAS PIK3CA
2 Decreased viability GR00055-A-2 10.6 HRAS KRAS PIK3CA
3 Decreased viability GR00055-A-3 10.6 KRAS
4 Decreased viability GR00106-A-0 10.6 KRAS
5 Decreased viability GR00221-A-1 10.6 AKT1 AKT3 FGFR3 HRAS NRAS KRAS
6 Decreased viability GR00221-A-2 10.6 AKT1 AKT3 FGFR3 HRAS KRAS PIK3CA
7 Decreased viability GR00221-A-3 10.6 AKT1 AKT3 FGFR3 HRAS NRAS
8 Decreased viability GR00221-A-4 10.6 AKT1 AKT3 PIK3CA
9 Decreased viability GR00249-S 10.6 AKT1 FGFR3
10 Decreased viability GR00301-A 10.6 AKT3 KRAS
11 Decreased viability GR00381-A-1 10.6 KRAS
12 Decreased viability GR00402-S-2 10.6 PIK3CA
13 no effect GR00402-S-1 10.19 AKT1 AKT3 COL7A1 ERAS FGF23 FGFR3
14 no effect GR00402-S-2 10.19 AKT1 AKT3 ERAS FGF23 FGFR3 GNAQ

MGI Mouse Phenotypes related to Nevus, Epidermal:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.47 AKT1 AKT3 COL7A1 FGF23 FGFR3 GJB2
2 homeostasis/metabolism MP:0005376 10.43 AKT1 AKT3 FGF23 FGFR3 GJB2 GNAQ
3 nervous system MP:0003631 10.37 AKT1 AKT3 FGFR3 GJB2 GNAQ HRAS
4 normal MP:0002873 10.31 AKT1 AKT3 COL7A1 FGFR3 GJB2 GNAQ
5 limbs/digits/tail MP:0005371 10.31 COL7A1 FGF23 FGFR3 GJB2 GNAQ KRAS
6 endocrine/exocrine gland MP:0005379 10.29 AKT1 AKT3 FGF23 GNAQ HRAS KRAS
7 cardiovascular system MP:0005385 10.28 AKT1 AKT3 FGF23 GJB2 GNAQ HRAS
8 immune system MP:0005387 10.27 AKT1 AKT3 COL7A1 FGF23 FGFR3 GJB2
9 neoplasm MP:0002006 10.23 AKT1 AKT3 FGFR3 HRAS KRAS KRT10
10 renal/urinary system MP:0005367 10.15 FGF23 FGFR3 GNAQ HRAS KRAS KRT2
11 pigmentation MP:0001186 10.13 GNAQ KRAS KRT1 KRT2 NRAS NSDHL
12 craniofacial MP:0005382 10.13 COL7A1 FGFR3 GJB2 GNAQ HRAS KRAS
13 digestive/alimentary MP:0005381 10.11 COL7A1 FGF23 FGFR3 HRAS KRAS NRAS
14 hearing/vestibular/ear MP:0005377 10.05 FGFR3 GJB2 GNAQ KRAS KRT10 KRT2
15 reproductive system MP:0005389 10 AKT1 AKT3 FGF23 FGFR3 GJB2 IVL
16 skeleton MP:0005390 9.97 AKT1 COL7A1 FGF23 FGFR3 GJB2 GNAQ
17 respiratory system MP:0005388 9.92 AKT1 FGF23 FGFR3 GNAQ HRAS KRAS
18 mortality/aging MP:0010768 9.91 AKT1 AKT3 COL7A1 FGF23 FGFR3 GJB2
19 integument MP:0010771 9.53 AKT1 COL7A1 FGF23 FGFR3 GJB2 GNAQ

Drugs & Therapeutics for Nevus, Epidermal

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 3
2 Antibodies Phase 3
3 Antibodies, Monoclonal Phase 3
4 Mitogens Phase 3
5
Lidocaine Approved, Vet_approved 137-58-6 3676
6
Ethanol Approved Early Phase 1 64-17-5 702
7
Squaric acid dibutyl ester Investigational Early Phase 1 2892-62-8
8 Anti-Arrhythmia Agents
9 Sodium Channel Blockers
10 Anesthetics, Local
11 Anesthetics
12 Diuretics, Potassium Sparing
13 Pharmaceutical Solutions Early Phase 1
14 Adjuvants, Immunologic Early Phase 1
15 Anti-Infective Agents Early Phase 1
16 Anti-Infective Agents, Local Early Phase 1
17 Immunologic Factors 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 Completed 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 and a Post-marketing Study of KRN23 Switched From the Phase 2 Trial Completed NCT02722798 Phase 2 KRN23
5 Imaging Modalities for Melanoma Screening and Diagnosis Recruiting NCT03699995 Lidocaine
6 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
7 Pilot Study of Imaging Human Skin With High-Speed Spectrally Encoded Confocal Microscopy Enrolling by invitation NCT04566302
8 Neoadjuvant Squaric Acid Dibutylester Treatment of Melanocytes in Congenital Melanocytic Nevi Not yet recruiting NCT04999631 Early Phase 1 Squaric Acid Dibutyl Ester;Ethanol Solution
9 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

Cochrane evidence based reviews: epidermal nevus

Genetic Tests for Nevus, Epidermal

Genetic tests related to Nevus, Epidermal:

# Genetic test Affiliating Genes
1 Epidermal Nevus 28 FGFR3 HRAS NRAS PIK3CA

Anatomical Context for Nevus, Epidermal

Organs/tissues related to Nevus, Epidermal:

MalaCards : Skin, Eye, Brain, Spinal Cord, Kidney, Temporal Lobe, Smooth Muscle

Publications for Nevus, Epidermal

Articles related to Nevus, Epidermal:

(show top 50) (show all 937)
# Title Authors PMID Year
1
HRAS mutation mosaicism causing urothelial cancer and epidermal nevus. 62 57 5
22087699 2011
2
Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. 62 57 5
20805368 2010
3
Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi. 57 5
24129065 2014
4
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 57 5
22683711 2012
5
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 57 5
22499344 2012
6
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 57 5
17673550 2007
7
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 57 5
16841094 2006
8
An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. 62 5
18642369 2008
9
Genetic and clinical mosaicism in a type of epidermal nevus. 62 57
7526210 1994
10
The twisting tale of woolly hair: a trait with many causes. 57
25561463 2015
11
Activating HRAS mutation in nevus spilus. 5
24390138 2014
12
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. 5
24006476 2014
13
Oncogenic Nras has bimodal effects on stem cells that sustainably increase competitiveness. 5
24284627 2013
14
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. 5
23392294 2013
15
Activating HRAS mutation in agminated Spitz nevi arising in a nevus spilus. 5
23884457 2013
16
Mosaic activating RAS mutations in nevus sebaceus and nevus sebaceus syndrome. 57
23096709 2013
17
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus. 57
23096712 2013
18
FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. 5
21324899 2011
19
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. 5
21079152 2011
20
Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. 5
20949522 2010
21
Physical basis behind achondroplasia, the most common form of human dwarfism. 5
20624921 2010
22
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. 5
18633438 2009
23
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs. 5
18266238 2008
24
Severe neonatal manifestations of Costello syndrome. 5
18039947 2008
25
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation. 5
17412879 2007
26
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 5
17332249 2007
27
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 5
17054105 2007
28
Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. 5
16766665 2006
29
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 5
16443854 2006
30
Germline mutations in HRAS proto-oncogene cause Costello syndrome. 5
16170316 2005
31
Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 5
15772091 2005
32
Mutation of the PIK3CA gene in ovarian and breast cancer. 5
15520168 2004
33
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. 5
15517832 2004
34
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. 5
12833394 2003
35
RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. 5
12727991 2003
36
Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets. 5
12835555 2003
37
Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14). 5
11529856 2001
38
Myopathy with muscle spindle excess: A new congenital neuromuscular syndrome? 5
11150980 2001
39
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father. 5
11186940 2000
40
Germline and somatic mosaicism in achondroplasia. 5
11186939 2000
41
Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. 5
11030304 2000
42
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. 5
10073901 1999
43
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. 5
9677066 1998
44
Myopathology in patients with a Noonan phenotype. 5
8960317 1996
45
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. 5
8858131 1996
46
Exclusive paternal origin of new mutations in Apert syndrome. 5
8673103 1996
47
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). 5
8845844 1996
48
Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. 5
7649548 1995
49
Clinicopathologic significance of the K-ras gene codon 12 point mutation in stomach cancer. An analysis of 140 cases. 5
7773929 1995
50
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 5
7773297 1995

Variations for Nevus, Epidermal

ClinVar genetic disease variations for Nevus, Epidermal:

5 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NRAS NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) SNV Pathogenic
39647 rs397514553 GRCh37: 1:115258681-115258681
GRCh38: 1:114716060-114716060
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>T (p.Gly12Val) SNV Pathogenic
12600 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
4 PIK3CA NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) SNV Pathogenic
39705 rs121913281 GRCh37: 3:178952084-178952084
GRCh38: 3:179234296-179234296
5 HRAS, LRRC56 NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) SNV Pathogenic
12606 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
6 HRAS, LRRC56 NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) SNV Pathogenic
12603 rs104894230 GRCh37: 11:534288-534288
GRCh38: 11:534288-534288
7 HRAS, LRRC56 NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV Pathogenic
Pathogenic
12613 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
8 HRAS, LRRC56 NM_005343.4(HRAS):c.179G>T (p.Gly60Val) SNV Pathogenic
391700 rs730880460 GRCh37: 11:533877-533877
GRCh38: 11:533877-533877
9 KRAS NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic
12582 rs121913529 GRCh37: 12:25398284-25398284
GRCh38: 12:25245350-25245350
10 FGFR3 NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) SNV Pathogenic
Pathogenic
16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
11 FGFR3 NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) SNV Pathogenic
16359 rs121913479 GRCh37: 4:1806089-1806089
GRCh38: 4:1804362-1804362
12 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic
Pathogenic
16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
13 FGFR3 NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic
16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
14 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic
16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
15 NRAS NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) SNV Pathogenic
39648 rs121913237 GRCh37: 1:115258747-115258747
GRCh38: 1:114716126-114716126
16 HRAS, LRRC56 NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) SNV Pathogenic
35554 rs104894228 GRCh37: 11:534286-534286
GRCh38: 11:534286-534286
17 NRAS NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) SNV Pathogenic
13900 rs11554290 GRCh37: 1:115256529-115256529
GRCh38: 1:114713908-114713908
18 HRAS, LRRC56 NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) SNV Pathogenic
12602 rs104894229 GRCh37: 11:534289-534289
GRCh38: 11:534289-534289
19 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic
65855 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
20 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic
16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
21 COL7A1 NM_000094.4(COL7A1):c.1442G>A (p.Arg481His) SNV Likely Pathogenic
373954 rs147040026 GRCh37: 3:48629171-48629171
GRCh38: 3:48591738-48591738
22 PIK3CA NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) SNV Uncertain Significance
403909 rs113613074 GRCh37: 3:178922361-178922361
GRCh38: 3:179204573-179204573
23 PIK3CA NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) SNV Uncertain Significance
526641 rs755969956 GRCh37: 3:178917561-178917561
GRCh38: 3:179199773-179199773
24 PIK3CA NM_006218.4(PIK3CA):c.1A>G (p.Met1Val) SNV Uncertain Significance
844646 rs1724332515 GRCh37: 3:178916614-178916614
GRCh38: 3:179198826-179198826
25 FGFR3 NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain Significance
546226 rs369232922 GRCh37: 4:1801071-1801071
GRCh38: 4:1799344-1799344
26 FGFR3 NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV Uncertain Significance
521225 rs139773438 GRCh37: 4:1808395-1808395
GRCh38: 4:1806668-1806668
27 FGFR3 NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) SNV Uncertain Significance
465350 rs764892330 GRCh37: 4:1808017-1808017
GRCh38: 4:1806290-1806290
28 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:

73
# 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 150)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 AKT1 AKT3 COL7A1 FGF23 FGFR3 HRAS
2
Show member pathways
13.9 PTEN PIK3CA NRAS KRAS HRAS FGFR3
3 13.9 PTEN PIK3CA NRAS KRAS HRAS GNAQ
4
Show member pathways
13.83 AKT1 AKT3 HRAS IVL KRAS KRT1
5
Show member pathways
13.65 PIK3CA NRAS KRAS HRAS FGFR3 FGF23
6
Show member pathways
13.6 PTEN PIK3CA NRAS KRAS HRAS GNAQ
7
Show member pathways
13.54 PTEN NRAS KRAS HRAS FGFR3 FGF23
8
Show member pathways
13.5 PTEN PIK3CA NRAS KRAS HRAS COL7A1
9
Show member pathways
13.5 AKT1 AKT3 FGF23 FGFR3 HRAS KRAS
10
Show member pathways
13.43 AKT1 FGF23 FGFR3 HRAS KRAS NRAS
11
Show member pathways
13.42 AKT1 AKT3 FGF23 FGFR3 HRAS KRAS
12
Show member pathways
13.18 PTEN PIK3CA FGFR3 FGF23 AKT3 AKT1
13
Show member pathways
13.16 NRAS KRAS HRAS FGFR3 FGF23 AKT1
14
Show member pathways
13.16 PTEN NRAS KRAS HRAS FGFR3 FGF23
15
Show member pathways
13.1 PIK3CA NRAS KRAS HRAS AKT3 AKT1
16
Show member pathways
13.06 PTEN NRAS KRAS HRAS AKT3 AKT1
17
Show member pathways
13.04 PIK3CA NRAS KRAS HRAS FGFR3 FGF23
18
Show member pathways
13.03 PTEN PIK3CA HRAS GNAQ AKT3 AKT1
19
Show member pathways
13.02 PIK3CA NRAS KRAS HRAS AKT3 AKT1
20
Show member pathways
13.01 PTEN PIK3CA NRAS KRAS HRAS FGFR3
21
Show member pathways
13 AKT1 AKT3 HRAS KRAS NRAS PIK3CA
22
Show member pathways
12.99 PTEN PIK3CA NRAS KRAS HRAS AKT3
23
Show member pathways
12.98 PIK3CA NRAS KRAS HRAS AKT3 AKT1
24
Show member pathways
12.97 PTEN PIK3CA NRAS KRAS HRAS FGFR3
25
Show member pathways
12.96 AKT1 AKT3 GNAQ HRAS KRAS NRAS
26
Show member pathways
12.95 PIK3CA NRAS KRAS HRAS GNAQ AKT3
27 12.94 AKT1 AKT3 FGF23 FGFR3 HRAS KRAS
28
Show member pathways
12.88 NRAS KRAS HRAS AKT3 AKT1
29
Show member pathways
12.86 PTEN PIK3CA HRAS AKT3 AKT1
30
Show member pathways
12.84 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
31
Show member pathways
12.82 PTEN PIK3CA FGFR3 FGF23 AKT3 AKT1
32 12.82 PTEN PIK3CA HRAS FGFR3 FGF23 AKT3
33
Show member pathways
12.81 AKT1 AKT3 GJB2 HRAS KRAS NRAS
34
Show member pathways
12.8 NRAS KRAS HRAS AKT3 AKT1
35
Show member pathways
12.78 AKT1 AKT3 HRAS IVL KRAS KRT1
36
Show member pathways
12.78 PTEN PIK3CA NRAS KRAS HRAS FGFR3
37
Show member pathways
12.74 AKT1 AKT3 FGF23 FGFR3 HRAS KRAS
38
Show member pathways
12.73 PIK3CA NRAS KRAS HRAS AKT3 AKT1
39
Show member pathways
12.73 PIK3CA NRAS KRAS HRAS FGFR3 FGF23
40
Show member pathways
12.63 AKT1 AKT3 HRAS KRAS NRAS PIK3CA
41
Show member pathways
12.6 PTEN PIK3CA HRAS AKT3 AKT1
42
Show member pathways
12.59 PTEN PIK3CA HRAS AKT1
43
Show member pathways
12.58 PIK3CA NRAS KRAS HRAS AKT3 AKT1
44
Show member pathways
12.57 PIK3CA NRAS KRAS HRAS COL7A1
45
Show member pathways
12.55 PIK3CA KRAS HRAS AKT3 AKT1
46
Show member pathways
12.55 PIK3CA NRAS KRAS HRAS AKT3 AKT1
47
Show member pathways
12.54 PIK3CA NRAS KRAS HRAS FGFR3 AKT3
48
Show member pathways
12.53 FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
49 12.5 AKT1 AKT3 FGF23 FGFR3 HRAS KRAS
50
Show member pathways
12.48 PTEN PIK3CA HRAS AKT3 AKT1

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 9.23 KRT2 KRT10 KRT1 IVL

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.21 PTEN KRAS HRAS FGFR3 FGF23 AKT1
2 protein kinase B signaling GO:0043491 9.93 PTEN PIK3CA AKT1
3 phosphatidylinositol 3-kinase signaling GO:0014065 9.88 PTEN PIK3CA AKT1
4 Ras protein signal transduction GO:0007265 9.76 NRAS KRAS HRAS ERAS
5 positive regulation of epidermis development GO:0045684 9.67 KRT2 KRT10
6 MAPK cascade GO:0000165 9.61 NRAS KRAS HRAS FGFR3 FGF23
7 response to insulin-like growth factor stimulus GO:1990418 9.56 PHEX AKT1
8 cellular response to decreased oxygen levels GO:0036294 9.5 AKT1 PTEN
9 peptide cross-linking GO:0018149 9.23 KRT2 KRT10 KRT1 IVL

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

# Name GO ID Score Top Affiliating Genes
1 GDP binding GO:0019003 9.76 NRAS KRAS HRAS ERAS
2 structural constituent of skin epidermis GO:0030280 9.73 KRT2 KRT10 KRT1
3 nucleotide binding GO:0000166 9.61 PIK3CA NRAS KRAS HRAS GNAQ FGFR3
4 protein serine/threonine kinase activator activity GO:0043539 9.5 PIK3CA KRAS HRAS
5 G protein activity GO:0003925 9.23 NRAS KRAS HRAS ERAS

Sources for Nevus, Epidermal

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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