Nevus, Epidermal disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

KNEN MCID: NVS017 MIFTS: 68	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 ⁴⁰ ⁷³

Epidermal Nevus ¹² ⁵³ ²⁵ ²⁹ ⁶ ¹⁵

Epidermal Nevus Syndrome ⁵⁹ ²⁹ ⁵⁵ ⁶

Epidermal Nevus, Somatic ⁵⁷ ¹³

Nevus, Woolly Hair ²⁹ ⁶

Woolly Hair Nevus ⁵⁹ ⁷³

Nevus Sebaceous or Woolly Hair Nevus, Somatic ⁵⁷

Nevus, Keratinocytic, Nonepidermolytic ⁵⁷

Keratinocytic Non-Epidermolytic Nevus ⁷⁵

Nonepidermolytic Keratinocytic Nevus ¹²

Epidermal Hamartoma Syndrome ⁵⁹

Organoid Nevus Phakomatosis ⁷³

Nevus, Epidermal, Somatic ⁵⁷

Melanocytic Nevus of Skin ⁷³

Melanocytic Nevus ⁷³

Epidermal Naevus ²⁵

Wooly Hair Nevus ⁵⁹

Pigmented Moles ⁷⁵

Nevus Sebaceous ⁷³

Knen ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

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

OMIM:

⁵⁷

Inheritance:
somatic

HPO:

³²

nevus, epidermal:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Phakomatoses, not elsewhere classified

Other phakomatoses, not elsewhere classified

Neoplasms

Benign neoplasms

Other benign neoplasms of skin

Benign neoplasm: Skin of scalp and neck

Orphanet: ⁵⁹

Rare eye diseases

Rare skin diseases

External Ids:

OMIM ⁵⁷ 162900

Disease Ontology ¹² DOID:0111162

Orphanet ⁵⁹ ORPHA35125 ORPHA79414

MESH via Orphanet ⁴⁵ C536114 D054000

UMLS via Orphanet ⁷⁴ C0334082 C0343114

ICD10 via Orphanet ³⁴ Q85.8 D23.4

MedGen ⁴² C0334082 C3665593

SNOMED-CT via HPO ⁶⁹ 263681008 82525005 82649003 more

UMLS ⁷³ C0334082 C0265329 C3854181 more

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Summaries for Nevus, Epidermal

OMIM : ⁵⁷ Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994). A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, 113800), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994). Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by Ramot and Zlotogorski, 2015). Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by Groesser et al., 2012). Also see giant pigmented hairy nevus (137550) and malignant melanoma (155600). (162900)

MalaCards based summary : Nevus, Epidermal, also known as epidermal nevus, is related to schimmelpenning-feuerstein-mims syndrome and epidermolytic nevus, and has symptoms including seizures An important gene associated with Nevus, Epidermal is HRAS (HRas Proto-Oncogene, GTPase), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and TGF-Beta Pathway. The drugs Immunoglobulins and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are osteopenia and global developmental delay

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

Genetics Home Reference : ²⁵ An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of cells in the outermost layer of skin (epidermis). Epidermal nevi are typically seen at birth or develop in early childhood. Affected individuals have one or more nevi that vary in size.

NIH Rare Diseases : ⁵³ An epidermal nevus is a noncancerous (benign) patch of skin caused by an overgrowth of skin cells. The nevi (plural form of nevus) are seen at birth or develop in early childhood. They can be flat, tan patches of skin, or raised, velvety patches and may become thicker and darker and develop a wart-like (verrucous) appearance. Often, epidermal nevi follow a pattern on the skin known as the �??lines of Blaschko�?�. Sometimes, people with an epidermal nevus may have problems in other body systems, such as the brain, eyes, or bones; these people are said to have an epidermal nevus syndrome, which is a group of different disorders. Mutations associated with an epidermal nevus are present only in the cells of the nevus, not in the normal skin cells surrounding it, and may involve the FGFR3, PIK3CA or, HRAS genes. Treatment is challenging and may include topical medication and surgery.

UniProtKB/Swiss-Prot : ⁷⁵ Keratinocytic non-epidermolytic nevus: Epidermal nevi of the common, non-organoid and non-epidermolytic type are benign skin lesions and may vary in their extent from a single (usually linear) lesion to widespread and systematized involvement. They may be present at birth or develop early during childhood.

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Related Diseases for Nevus, Epidermal

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

(show top 50) (show all 192)

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

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

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Symptoms & Phenotypes for Nevus, Epidermal

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skin Nails Hair Skin:
multiple nevi
pigmented moles
woolly hair nevus (in some patients)
hyperpigmented patches of skin (in some patients)
raised, scaly, and/or hyperkeratotic areas of skin (in some patients)

Skin Nails Hair Hair:
patches of tightly curled scalp hair adjacent to straight hair (in some patients)

Clinical features from OMIM:

162900

Human phenotypes related to Nevus, Epidermal:

⁵⁹ ³² (show all 29)

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

UMLS symptoms related to Nevus, Epidermal:

seizures

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

²⁶ (show all 11)

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

MGI Mouse Phenotypes related to Nevus, Epidermal:

⁴⁶ (show all 16)

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

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Drugs & Therapeutics for Nevus, Epidermal

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

(show all 11)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Immunoglobulins

Phase 3,Phase 2

Antibodies, Monoclonal

Phase 3

Mitogens

Phase 3

Antibodies

Phase 3,Phase 2

Pharmaceutical Solutions

Phase 2

Angiotensin II

Approved, Investigational

11128-99-7, 68521-88-0, 4474-91-3

172198 65143

Synonyms:

1-8-Angiotensin I

1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide

5 L Isoleucine angiotensin II

5-isoleucine-angiotensin II

5-Isoleucine-angiotensin II

5-L-Isoleucine angiotensin II

5-L-isoleucineangiotensin II

5-L-Isoleucineangiotensin II

Ang II

ANG-(1-8)octapeptide

Angiotensin

Angiotensin 2

Angiotensin II (human)

Angiotensin II (mouse)

Angiotensin II, 5-L-isoleucine

Angiotensin-(1-8) octapeptide

Angiotonin

Asp-arg-val-tyr-ile-his-pro-phe

Human angiotensin II

Hypertensin

II, 5-L-isoleucine angiotensin

Ile(5)-angiotensin II

Ile5-angiotensin II

Isoleucine(5)-angiotensin

Isoleucine(5)-angiotensin II

isoleucine5-angiotensin II

Isoleucyl(5)-angiotensin II

N-(1-(N-(N-(N-(N-(N(2)-L-a-Aspartyl-L-arginyl)-L-valyl)-L-tyrosyl)-L-isoleucyl)-L-histidyl)-L-prolyl)-L-phenylalanine

N-(1-(N-(N-(N-(N-(N(2)-L-alpha-Aspartyl-L-arginyl)-L-valyl)-L-tyrosyl)-L-isoleucyl)-L-histidyl)-L-prolyl)-L-phenylalanine

N-(1-(N-(N-(N-(N-(N(2)-L-α-aspartyl-L-arginyl)-L-valyl)-L-tyrosyl)-L-isoleucyl)-L-histidyl)-L-prolyl)-L-phenylalanine

Valyl(5)-angiotensin II

Endothelial Growth Factors

Angiotensin I (1-7)

Vasodilator Agents

Antihypertensive Agents

Angiotensinogen

Interventional clinical trials:

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

Search NIH Clinical Center for Nevus, Epidermal

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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

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Anatomical Context for Nevus, Epidermal

MalaCards organs/tissues related to Nevus, Epidermal:

⁴¹

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

Sources

Publications for Nevus, Epidermal

Articles related to Nevus, Epidermal:

(show top 50) (show all 385)

#	Title	Authors	Year
1	Inflammatory linear verrucous epidermal nevus associated with erosive monoarthritis. ( 29974513 )	Bertolin-Colilla M....Pujol R.M.	2018
2	Reconstruction of a buttock defect after excision of inflammatory linear verrucous epidermal nevus. ( 29624795 )	Zhang Q....Fang F.	2018
3	Successful Treatment of Inflammatory Linear Verrucous Epidermal Nevus with Concomitant Psoriasis Using Etanercept. ( 29606943 )	Saifaldeen R.H....Khan A.S.	2018
4	Widely Spread Unilateral Inflammatory Linear Verrucous Epidermal Nevus (ILVEN). ( 30022937 )	Tanita K...Aiba S	2018
5	Treatment of inflammatory linear verrucous epidermal nevus pruritus with thalidomide. ( 30091521 )	Ossorio-Garc?a L...Linares-Barrios M	2018
6	Inflammatory linear verrucous epidermal nevus responsive to 308-nm excimer laser treatment. ( 30235359 )	Grgurich E...Purcell SM	2018
7	Verruciform xanthoma overlying inflammatory linear verrucous epidermal nevus and in broad segmental distribution. ( 30337284 )	Singh S...Agarwal S	2018
8	Segmental epidermal nevus and mucosal neuromas associated with PIK3CA-related overgrowth spectrum disorder. ( 30511004 )	Roth GM...Wanat KA	2018
9	Successful Treatment of Epidermal Nevus-associated Pruritus with Topical Ketamine-Amitriptyline-Lidocaine. ( 28972247 )	Jaller JA...Yosipovitch G	2018
10	Epidermal nevus syndromes: New insights into whorls and swirls. ( 29044700 )	Asch S...Sugarman JL	2018
11	Familial papular epidermal nevus with "skyline" basal cell layer and multiple pilomatricomas: A new association? ( 29488242 )	Rizzoli L...Girardelli CR	2018
12	A case of cutaneous horn arising in verrucous epidermal nevus. ( 29536972 )	Bains A...Nalwa A	2018
13	Familial papular epidermal nevus with "skyline" basal cell layer. ( 29575181 )	Beteta-Gorriti V...Ca?ueto J	2018
14	Successful treatment of verrucous epidermal nevus with fractional micro-plasma radio-frequency technology and photodynamic therapy. ( 30130422 )	Zheng X...Zeng K	2018
15	Appearance of Verruca Over Linear Verrucous Epidermal Nevus - An Example of Locus Minoris Resistentiae: A Report of Three Cases. ( 30258804 )	Ranugha PSS...Basavaraj V	2018
16	A Case of Cap Polyposis with Epidermal Nevus in an Infant. ( 28378565 )	Kim S.C....Hwang P.H.	2017
17	Dermoscopy of linear dermatosis along Blaschko's line in childhood: Lichen striatus versus inflammatory linear verrucous epidermal nevus. ( 28925078 )	Kim D.W....Park J.	2017
18	Is Ki-67, keratin 16, involucrin, and filaggrin immunostaining sufficient to diagnose inflammatory linear verrucous epidermal nevus? A report of eight cases and a comparison with psoriasis vulgaris. ( 29166506 )		2017
19	A Case of &quot;Inflammatory Linear Verrucous Epidermal Nevus&quot; (ILVEN) Treated with CO2 Laser Ablation. ( 28785331 )		2017
20	Inflammatory linear verrucous epidermal nevus: an unusual manifestation. ( 26426377 )	Bassi A...Syed S	2017
21	Seborrheic keratosis arising on an epidermal nevus with HRAS p.G13R mutation. ( 28247919 )	Kitamura S...Shimizu H	2017
22	Er:YAG laser treatment of epidermal nevus syndrome. ( 27644122 )	Lee JH...Im M	2017
23	Massive Vulvar Linear Verrucous Epidermal Nevus Presenting at Menarche. ( 28093318 )	Morrison JE...Bonham A	2017
24	Dermoscopy of Papular Epidermal Nevus with Skyline Basal Cell Layer. ( 28111793 )	Balestri R...Girardelli CR	2017
25	Papular Epidermal Nevus with "Skyline" Basal Cell Layer Syndrome - Natural Course: Case Report and Literature Review. ( 28203156 )	Zahn CA...Itin P	2017
26	Papillary transitional cell bladder carcinoma and systematized epidermal nevus syndrome. ( 28207006 )	Akingboye A...Taylor GA	2017
27	Nevoid Psoriasis Coexisting with Verrucous Epidermal Nevus. ( 28405565 )	Masatkar V...Mittal A	2017
28	Widespread epidermal nevus with a postzygotic FGFR3 mutation. ( 28664990 )	Doi H...Ishida-Yamamoto A	2017
29	Giant Cutaneous Horn Arising in an Epidermal Nevus. ( 28783212 )	Cardis MA...Kirkorian AY	2017
30	Inflammatory linear verrucous epidermal nevus with a postzygotic GJA1 mutation is a mosaic erythrokeratodermia variabilis et progressiva. ( 27890787 )	Umegaki-Arao N....Kubo A.	2016
31	Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome. ( 27502266 )		2016
32	Two cases of agminated keratinocytic epidermal nevus resembling segmentally arranged seborrheic keratosis. ( 27154009 )		2016
33	Spatial co-occurrence of hemangioma and epidermal nevus. ( 26566756 )	Errichetti E...Piccirillo A	2016
34	Dermoscopy of verrucous epidermal nevus: large brown circles as a novel feature for diagnosis. ( 26475079 )	Carbotti M...Panasiti V	2016
35	Novel postzygotic KRAS mutation in a Japanese case of epidermal nevus syndrome presenting with two distinct clinical features, keratinocytic epidermal nevi and sebaceous nevi. ( 26498739 )	Igawa S...Ishida-Yamamoto A	2016
36	Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature. ( 26939784 )	Luna PC...Larralde M	2016
37	Linear Epidermal Nevus: A Case Report With Oral and Facial Manifestations. ( 27160364 )	Maly C...Cole H	2016
38	Cutaneous and brain malformations of epidermal nevus syndrome: A classical image. ( 27857810 )	Israni A...Gulati S	2016
39	Multiple basal cell carcinomas arising in an epidermal nevus. ( 27879078 )	Messerschmidt A...Meissner M	2016
40	First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities. ( 28083460 )	Ullah W...Khan S	2016
41	Squamous cell carcinoma arising in a multiple verrucous epidermal nevus. ( 28300931 )	Yarak S...Porro AM	2016
42	Precocious puberty in a 3-year-old child with systematized verrucous epidermal nevus. ( 25751347 )	Garg T....Sahni K.	2015
43	Eruptive Syringocystadenoma Papilliferum, Keratoacanthoma, and Verruca Vulgaris in a Keratinocytic Epidermal Nevus on the Leg. ( 26790513 )	Pewitt J.D....Chan L.S.	2015
44	Inflammatory linear verrucous epidermal nevus and regional odontodysplasia: A rare sorority. ( 26752881 )	Prakash S.M....Goel S.	2015
45	Genital/Perigenital Inflammatory Linear Verrucous Epidermal Nevus: A Case Series. ( 26677274 )	Bandyopadhyay D....Saha A.	2015
46	Woolly Hair with Systematized Epidermal Nevus. ( 26538742 )	Kalwaniya S....Nyati A.	2015
47	Nd:YAG Q-switched laser for the treatment of a hemicorporal epidermal nevus: A safe and effective option. ( 25803678 )	Aguado Gil L....Ivars Alonso M.	2015
48	Multifocal basal cell carcinoma arising within a linear epidermal nevus. ( 25657916 )	Mordovtseva V.V.	2015
49	A Case of Inflammatory Linear Verrucous Epidermal Nevus on the Upper Eyelid. ( 26120188 )	Nakai N....Katoh N.	2015
50	Basal cell carcinoma arising on a verrucous epidermal nevus: a case report. ( 25848348 )	Viana A....Ramos-E-Silva M.	2015

Sources

Genes for Nevus, Epidermal

Genes related to Nevus, Epidermal (5 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	1514.46	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative somatic mutation ⁵⁹ Genetic Tests ²⁹ Susceptibility factor ⁵⁷ DISEASES inferred ¹⁵	24006476
2	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	1400	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹	22499344 12727991 18633438 (more) 23392294 24006476 24284627 17332249
3	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	1316.9	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵	7773297 8858131 9677066 (more) 10073901 11529856 12833394 15772091 16841094 18642369 8845844 7649548 7913883 8078586 8673103 11030304 15517832 11186939 11186940 16766665 18266238 20624921 21324899
4	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1015.54	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵	15520168 17673550
5	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	521	Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	8439212 7773929 20805368 (more) 22683711 20949522 22499344 17332249 21079152
6	FGF23	Fibroblast Growth Factor 23	Protein Coding	21.96	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	15742370
7	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	17.73	DISEASES inferred ¹⁵
8	KRT74	Keratin 74	Protein Coding	17.36	DISEASES inferred ¹⁵
9	KRT10	Keratin 10	Protein Coding	15.98	DISEASES inferred ¹⁵
10	IGF2	Insulin Like Growth Factor 2	Protein Coding	15.91	DISEASES inferred ¹⁵
11	NSDHL	NAD(P) Dependent Steroid Dehydrogenase-Like	Protein Coding	15.33	DISEASES inferred ¹⁵
12	ATP2A2	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2	Protein Coding	15.28	DISEASES inferred ¹⁵
13	PIGL	Phosphatidylinositol Glycan Anchor Biosynthesis Class L	Protein Coding	15.15	DISEASES inferred ¹⁵
14	KRT16	Keratin 16	Protein Coding	15.04	DISEASES inferred ¹⁵

Sources

Variations for Nevus, Epidermal

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

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	FGFR3	p.Arg248Cys	VAR_004148	rs121913482
2	FGFR3	p.Gly370Cys	VAR_004151	rs121913479
3	FGFR3	p.Gly380Arg	VAR_004155	rs28931614
4	NRAS	p.Gln61Arg	VAR_006847	rs11554290
5	NRAS	p.Gly12Asp	VAR_071129	rs121913237
6	NRAS	p.Pro34Leu	VAR_071130	rs397514553

ClinVar genetic disease variations for Nevus, Epidermal:

⁶ (show all 32)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KRAS	NM_004985.4(KRAS): c.35G> A (p.Gly12Asp)	single nucleotide variant	Pathogenic	rs121913529	GRCh37	Chromosome 12, 25398284: 25398284
2	KRAS	NM_004985.4(KRAS): c.35G> A (p.Gly12Asp)	single nucleotide variant	Pathogenic	rs121913529	GRCh38	Chromosome 12, 25245350: 25245350
3	KRAS	NM_004985.4(KRAS): c.35G> T (p.Gly12Val)	single nucleotide variant	Pathogenic	rs121913529	GRCh37	Chromosome 12, 25398284: 25398284
4	KRAS	NM_004985.4(KRAS): c.35G> T (p.Gly12Val)	single nucleotide variant	Pathogenic	rs121913529	GRCh38	Chromosome 12, 25245350: 25245350
5	HRAS	NM_005343.3(HRAS): c.35G> T (p.Gly12Val)	single nucleotide variant	Pathogenic	rs104894230	GRCh37	Chromosome 11, 534288: 534288
6	HRAS	NM_005343.3(HRAS): c.35G> T (p.Gly12Val)	single nucleotide variant	Pathogenic	rs104894230	GRCh38	Chromosome 11, 534288: 534288
7	HRAS	NM_005343.3(HRAS): c.34G> A (p.Gly12Ser)	single nucleotide variant	Pathogenic	rs104894229	GRCh37	Chromosome 11, 534289: 534289
8	HRAS	NM_005343.3(HRAS): c.34G> A (p.Gly12Ser)	single nucleotide variant	Pathogenic	rs104894229	GRCh38	Chromosome 11, 534289: 534289
9	HRAS	NM_005343.3(HRAS): c.35G> A (p.Gly12Asp)	single nucleotide variant	Pathogenic	rs104894230	GRCh37	Chromosome 11, 534288: 534288
10	HRAS	NM_005343.3(HRAS): c.35G> A (p.Gly12Asp)	single nucleotide variant	Pathogenic	rs104894230	GRCh38	Chromosome 11, 534288: 534288
11	HRAS	NM_005343.3(HRAS): c.34G> T (p.Gly12Cys)	single nucleotide variant	Pathogenic	rs104894229	GRCh37	Chromosome 11, 534289: 534289
12	HRAS	NM_005343.3(HRAS): c.34G> T (p.Gly12Cys)	single nucleotide variant	Pathogenic	rs104894229	GRCh38	Chromosome 11, 534289: 534289
13	PIK3CA	NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913274	GRCh37	Chromosome 3, 178936092: 178936092
14	PIK3CA	NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913274	GRCh38	Chromosome 3, 179218304: 179218304
15	NRAS	NM_002524.4(NRAS): c.182A> G (p.Gln61Arg)	single nucleotide variant	Pathogenic	rs11554290	GRCh37	Chromosome 1, 115256529: 115256529
16	NRAS	NM_002524.4(NRAS): c.182A> G (p.Gln61Arg)	single nucleotide variant	Pathogenic	rs11554290	GRCh38	Chromosome 1, 114713908: 114713908
17	FGFR3	NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)	single nucleotide variant	Pathogenic	rs28931614	GRCh37	Chromosome 4, 1806119: 1806119
18	FGFR3	NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg)	single nucleotide variant	Pathogenic	rs28931614	GRCh38	Chromosome 4, 1804392: 1804392
19	FGFR3	NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)	single nucleotide variant	Pathogenic	rs121913482	GRCh37	Chromosome 4, 1803564: 1803564
20	FGFR3	NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)	single nucleotide variant	Pathogenic	rs121913482	GRCh38	Chromosome 4, 1801837: 1801837
21	FGFR3	NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)	single nucleotide variant	Pathogenic	rs121913479	GRCh37	Chromosome 4, 1806089: 1806089
22	FGFR3	NM_000142.4(FGFR3): c.1108G> T (p.Gly370Cys)	single nucleotide variant	Pathogenic	rs121913479	GRCh38	Chromosome 4, 1804362: 1804362
23	HRAS	NM_005343.3(HRAS): c.37G> C (p.Gly13Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs104894228	GRCh37	Chromosome 11, 534286: 534286
24	HRAS	NM_005343.3(HRAS): c.37G> C (p.Gly13Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs104894228	GRCh38	Chromosome 11, 534286: 534286
25	NRAS	NM_002524.4(NRAS): c.101C> T (p.Pro34Leu)	single nucleotide variant	Pathogenic	rs397514553	GRCh37	Chromosome 1, 115258681: 115258681
26	NRAS	NM_002524.4(NRAS): c.101C> T (p.Pro34Leu)	single nucleotide variant	Pathogenic	rs397514553	GRCh38	Chromosome 1, 114716060: 114716060
27	NRAS	NM_002524.4(NRAS): c.35G> A (p.Gly12Asp)	single nucleotide variant	Pathogenic	rs121913237	GRCh37	Chromosome 1, 115258747: 115258747
28	NRAS	NM_002524.4(NRAS): c.35G> A (p.Gly12Asp)	single nucleotide variant	Pathogenic	rs121913237	GRCh38	Chromosome 1, 114716126: 114716126
29	HRAS	NM_005343.3(HRAS): c.182A> G (p.Gln61Arg)	single nucleotide variant	Likely pathogenic	rs121913233	GRCh38	Chromosome 11, 533874: 533874
30	HRAS	NM_005343.3(HRAS): c.182A> G (p.Gln61Arg)	single nucleotide variant	Likely pathogenic	rs121913233	GRCh37	Chromosome 11, 533874: 533874
31	COL7A1	NM_000094.3(COL7A1): c.1442G> A (p.Arg481His)	single nucleotide variant	Likely pathogenic	rs147040026	GRCh38	Chromosome 3, 48591738: 48591738
32	COL7A1	NM_000094.3(COL7A1): c.1442G> A (p.Arg481His)	single nucleotide variant	Likely pathogenic	rs147040026	GRCh37	Chromosome 3, 48629171: 48629171

Sources

Expression for Nevus, Epidermal

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

Sources

Pathways for Nevus, Epidermal

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

(show top 50) (show all 131)

#	Super pathways	Score	Top Affiliating Genes
1	Activation of cAMP-Dependent PKA ⁶⁴ Show member pathways Activation of PKA through GPCR ⁶⁴ cAMP Pathway ⁶⁴ PKA Signaling ⁶⁴	13.59	AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
2	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	13.59	AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
3	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁶	13.5	AKT3 FGF23 FGFR3 HRAS KRAS NRAS
4	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.46	AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
5	Developmental Biology ⁶⁶ Show member pathways Axon guidance ⁶⁶	13.45	AKT3 FGF23 FGFR3 HRAS KRAS KRT10
6	CREB Pathway ⁶⁴ Show member pathways Activation of PKC through GPCR ⁶⁴ Intracellular Calcium Signaling ⁶⁴ IP3 Pathway ⁶⁴	13.39	ATP2A2 FGF23 FGFR3 HRAS IGF2 KRAS
7	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.38	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
8	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	13.38	AKT3 ATP2A2 HRAS IGF2 KRAS NRAS
9	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.36	AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
10	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	13.31	FGF23 FGFR3 HRAS IGF2 KRAS NRAS
11	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	13.15	AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
12	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	13.12	FGF23 FGFR3 HRAS IGF2 KRAS NRAS
13	Circadian entrainment ³⁷ Show member pathways Cholinergic synapse ³⁷ Dopaminergic synapse ³⁷ Estrogen signaling pathway ³⁷ Glutamatergic synapse ³⁷ Relaxin receptors ⁶⁶ Relaxin signaling pathway ³⁷ Synaptic Neurotransmission Pathways: Glutamatergic Excitation ⁶⁵	13.11	AKT3 HRAS KRAS KRT10 KRT16 NRAS
14	Human cytomegalovirus infection ³⁷ Show member pathways Hepatitis B ³⁷ Human immunodeficiency virus 1 infection ³⁷ Kaposi sarcoma-associated herpesvirus infection ³⁷	13.08	AKT3 HRAS KRAS NRAS PIK3CA
15	TNFR1 Pathway ⁶⁴ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²² Apoptosis through Death Receptors ⁶⁴ Apoptotic Pathways Triggered By HIV1 ⁶⁴ DR3 Signaling ⁶⁴ Fas Signaling ⁶⁴ GITR Pathway ⁶⁴ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁶ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶⁴ TRAIL Pathway ⁶⁴ TWEAK Pathway ⁶⁴	13.02	AKT3 HRAS IGF2 KRAS NRAS PIK3CA
16	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.97	AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
17	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.95	AKT3 HRAS KRAS NRAS PIK3CA
18	Regulation of lipid metabolism Insulin signaling-generic cascades ²² Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²² Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² ErbB2/ErbB3 signaling events ¹ Glucose Homeostasis ¹ Insulin signaling pathway ³⁷ IRS activation ⁶⁶ Signal attenuation ⁶⁶ Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation Insulin regulation of translation ²²	12.95	AKT3 HRAS KRAS NRAS PIK3CA
19	Focal Adhesion ¹ ³⁷ Show member pathways HGF Pathway ⁶⁴ Integrin-mediated Cell Adhesion ¹	12.95	AKT3 HRAS KRAS NRAS PIK3CA
20	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.95	AKT3 FGFR3 HRAS IGF2 KRAS NRAS
21	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ³⁷	12.94	AKT3 HRAS KRAS NRAS PIK3CA
22	Downstream signaling of activated FGFR2 ⁶⁶ Show member pathways Activated point mutants of FGFR2 ⁶⁶ betaKlotho-mediated ligand binding ⁶⁶ Downstream signaling of activated FGFR1 ⁶⁶ Downstream signaling of activated FGFR3 ⁶⁶ Downstream signaling of activated FGFR4 ⁶⁶ FGFR2c ligand binding and activation ⁶⁶ FGFR4 ligand binding and activation ⁶⁶ FGFR4 mutant receptor activation ⁶⁶ FRS-mediated FGFR1 signaling ⁶⁶ FRS-mediated FGFR2 signaling ⁶⁶ FRS-mediated FGFR3 signaling ⁶⁶ FRS-mediated FGFR4 signaling ⁶⁶ Phospholipase C-mediated cascade- FGFR1 ⁶⁶ Phospholipase C-mediated cascade; FGFR2 ⁶⁶ Phospholipase C-mediated cascade; FGFR3 ⁶⁶ Phospholipase C-mediated cascade; FGFR4 ⁶⁶ PI-3K cascade-FGFR1 ⁶⁶ PI-3K cascade-FGFR2 ⁶⁶ PI-3K cascade-FGFR3 ⁶⁶ PI-3K cascade-FGFR4 ⁶⁶ SHC-mediated cascade-FGFR1 ⁶⁶ SHC-mediated cascade-FGFR2 ⁶⁶ SHC-mediated cascade-FGFR3 ⁶⁶ SHC-mediated cascade-FGFR4 ⁶⁶ Signaling by FGFR3 fusions in cancer ⁶⁶ Signaling by FGFR3 in disease ⁶⁶ Signaling by FGFR3 point mutants in cancer ⁶⁶ Signaling by FGFR4 in disease ⁶⁶	12.94	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
23	Endometrial cancer ³⁷ Show member pathways Acute myeloid leukemia ³⁷ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁶ Chronic myeloid leukemia ³⁷ Colorectal cancer ³⁷ Pancreatic cancer ³⁷ Prostate cancer ³⁷ Signal transduction PTEN pathway ²² Thyroid cancer ³⁷	12.92	AKT3 HRAS KRAS NRAS PIK3CA
24	Apoptosis Modulation and Signaling ¹ Show member pathways Apoptosis ¹ Apoptosis ³⁷ Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathways ⁶⁵ Death Receptor Signaling ⁶⁷	12.89	AKT3 HRAS IGF2 KRAS NRAS PIK3CA
25	MAPK-Erk Pathway ⁶⁷ Show member pathways Actin Dynamics Signaling Pathway ⁶⁷ G Protein-coupled Receptors Signaling ⁶⁷	12.82	HRAS KRAS NRAS PIK3CA
26	Glioma ³⁷ Show member pathways EGFR tyrosine kinase inhibitor resistance ³⁷ Endocrine resistance ³⁷ Melanoma ³⁷ Non-small cell lung cancer ³⁷ Signaling Pathways in Glioblastoma ¹	12.82	AKT3 FGF23 FGFR3 HRAS KRAS NRAS
27	MAPK signaling pathway ³⁷ ¹	12.81	AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
28	Vascular smooth muscle contraction ³⁷ Show member pathways cGMP-PKG signaling pathway ³⁷ Oxytocin signaling pathway ³⁷	12.8	AKT3 ATP2A2 HRAS KRAS NRAS
29	Gastric cancer ³⁷ Show member pathways Breast cancer ³⁷ Hepatocellular carcinoma ³⁷	12.8	AKT3 FGF23 HRAS IGF2 KRAS NRAS
30	Development HGF signaling pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²² Apoptosis and survival NGF signaling pathway ²² Apoptosis and survival Role of CDK5 in neuronal death and survival ²² Development Neurotrophin family signaling ²² MET activates PTPN11 ⁶⁶ MET activates STAT3 ⁶⁶ Neurotrophin signaling pathway ³⁷ Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ¹ Signaling of Hepatocyte Growth Factor Receptor ¹	12.79	AKT3 HRAS KRAS NRAS PIK3CA
31	Development Endothelin-1/EDNRA signaling ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA transactivation of EGFR ²² GnRH signaling pathway ³⁷ Inflammatory mediator regulation of TRP channels ³⁷	12.75	AKT3 HRAS KRAS NRAS PIK3CA
32	Downstream signaling events of B Cell Receptor (BCR) ⁶⁶ Show member pathways Activation of RAS in B cells ⁶⁶ Signaling by the B Cell Receptor (BCR) ⁶⁶	12.75	AKT3 FGF23 FGFR3 HRAS KRAS NRAS
33	Regulation of actin cytoskeleton ¹ ³⁷	12.73	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
34	Pathways in cancer ³⁷	12.73	AKT3 FGF23 FGFR3 HRAS IGF2 KRAS
35	G-AlphaQ Signaling ⁶⁴ Show member pathways G-AlphaI Signaling ⁶⁴ Thrombin Signaling ⁶⁴	12.69	AKT3 HRAS KRAS NRAS
36	Negative regulation of FGFR1 signaling ⁶⁶ Show member pathways FGFR1 ligand binding and activation ⁶⁶ FGFR1b ligand binding and activation ⁶⁶ FGFR1c and Klotho ligand binding and activation ⁶⁶ FGFR1c ligand binding and activation ⁶⁶ FGFRL1 modulation of FGFR1 signaling ⁶⁶ Negative regulation of FGFR2 signaling ⁶⁶ Negative regulation of FGFR3 signaling ⁶⁶ Negative regulation of FGFR4 signaling ⁶⁶ Signaling by activated point mutants of FGFR1 ⁶⁶ Signaling by FGFR1 ⁶⁶ Signaling by FGFR1 amplification mutants ⁶⁶ Signaling by FGFR3 ⁶⁶ Signaling by FGFR4 ⁶⁶ Spry regulation of FGF signaling ⁶⁶	12.69	FGF23 FGFR3 HRAS KRAS NRAS PIK3CA
37	Immune response IL-23 signaling pathway ²² Show member pathways Angiopoietin receptor Tie2-mediated signaling ¹ Angiopoietin-TIE2 Signaling ⁶⁴ Development Angiopoietin - Tie2 signaling ²² Development PDGF signaling via STATs and NF-kB ²² IL23-mediated signaling events ¹ Immune response IL-10 signaling pathway ²² Rac1/Pak1/p38/MMP-2 pathway ¹	12.68	AKT3 HRAS KRAS NRAS PIK3CA
38	Immune response Fc epsilon RI pathway ²² Show member pathways Fc epsilon RI signaling pathway ³⁷ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²² VEGF signaling pathway ³⁷	12.68	AKT3 HRAS KRAS NRAS PIK3CA
39	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ¹	12.63	AKT3 HRAS KRAS NRAS PIK3CA
40	MicroRNAs in cancer ³⁷	12.61	FGFR3 HRAS KRAS NRAS PIK3CA
41	mTOR signaling pathway (KEGG) ⁶⁵ Show member pathways mTOR signaling pathway ³⁷	12.59	AKT3 FGFR3 HRAS KRAS NRAS PIK3CA
42	Prolactin Signaling Pathway ¹ ³⁷ Show member pathways Development Prolactin receptor signaling ²² Leptin signaling pathway ¹	12.58	AKT3 HRAS KRAS NRAS PIK3CA
43	ErbB signaling pathway ¹ ³⁷ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶¹ Renal cell carcinoma ³⁷ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	12.58	AKT3 HRAS KRAS NRAS PIK3CA
44	Immune response Role of DAP12 receptors in NK cells ²² Show member pathways Immune response CD16 signaling in NK cells ²² Natural killer cell mediated cytotoxicity ³⁷	12.56	HRAS KRAS NRAS PIK3CA
45	T cell receptor signaling pathway ³⁷ Show member pathways T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.53	AKT3 HRAS KRAS NRAS PIK3CA
46	Human T-cell leukemia virus 1 infection ³⁷	12.53	AKT3 HRAS KRAS NRAS PIK3CA
47	Apoptosis Pathway ⁷² Show member pathways Akt Pathway ⁷² NF-kappaB Pathway ⁷²	12.52	AKT3 FGFR3 HRAS KRAS NRAS PIK3CA
48	VEGF Pathway (Qiagen) ²² Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶⁴ Neurophilin interactions with VEGF and VEGFR ⁶⁶ VEGF Family Ligands and Receptor Interactions ⁶⁴ VEGF Pathway ⁶⁴	12.51	AKT3 HRAS KRAS NRAS PIK3CA
49	JAK-STAT signaling pathway (KEGG) ³⁷ Show member pathways Interleukin-19, 20, 22, 24 ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵	12.5	AKT3 HRAS KRAS NRAS PIK3CA
50	Phospholipase D signaling pathway ³⁷ Show member pathways Choline metabolism in cancer ³⁷	12.5	AKT3 HRAS KRAS NRAS PIK3CA

Sources

GO Terms for Nevus, Epidermal

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

(show all 14)

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

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

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

Sources

Sources for Nevus, Epidermal

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁷ CNVD

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⁹ Cosmic

¹⁰ dbSNP

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

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²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

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³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

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Nevus, Epidermal (KNEN)

Aliases & Classifications for Nevus, Epidermal

MalaCards integrated aliases for Nevus, Epidermal:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Nevus, Epidermal

Related Diseases for Nevus, Epidermal

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

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

Symptoms & Phenotypes for Nevus, Epidermal

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Nevus, Epidermal:

UMLS symptoms related to Nevus, Epidermal:

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

MGI Mouse Phenotypes related to Nevus, Epidermal:

Drugs & Therapeutics for Nevus, Epidermal

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

Interventional clinical trials:

Genetic Tests for Nevus, Epidermal

Genetic tests related to Nevus, Epidermal:

Anatomical Context for Nevus, Epidermal

MalaCards organs/tissues related to Nevus, Epidermal:

Publications for Nevus, Epidermal

Articles related to Nevus, Epidermal:

Genes for Nevus, Epidermal

Genes related to Nevus, Epidermal (5 elite genes):

Variations for Nevus, Epidermal

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

ClinVar genetic disease variations for Nevus, Epidermal:

Expression for Nevus, Epidermal

Pathways for Nevus, Epidermal

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

GO Terms for Nevus, Epidermal

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

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

Sources for Nevus, Epidermal