EV
MCID: EPD001
MIFTS: 51

Epidermodysplasia Verruciformis (EV)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermodysplasia Verruciformis

MalaCards integrated aliases for Epidermodysplasia Verruciformis:

Name: Epidermodysplasia Verruciformis 57 12 76 53 59 75 37 29 13 55 6 44 15 40 73
Lutz-Lewandowsky Epidermodysplasia Verruciformis 53 59
Lewandowsky-Lutz Syndrome 53 59
Ev 57 75

Characteristics:

Orphanet epidemiological data:

59
epidermodysplasia verruciformis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
? autosomal recessive predisposition to viral etiology


Classifications:



External Ids:

OMIM 57 226400
Disease Ontology 12 DOID:13777
MeSH 44 D004819
NCIt 50 C126877
SNOMED-CT 68 19138001
Orphanet 59 ORPHA302
UMLS via Orphanet 74 C0014522
MESH via Orphanet 45 D004819
ICD10 via Orphanet 34 B07
MedGen 42 C0014522
KEGG 37 H00842
UMLS 73 C0014522

Summaries for Epidermodysplasia Verruciformis

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 302Disease definitionEpidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.EpidemiologyThe exact prevalence of EV is unknown; more than 200 cases have been reported in the literature so far.Clinical descriptionThe disease usually manifests during infancy (7.5% of cases), childhood (61.5% of cases) or puberty (22% of cases) with a progressive development of hyperpigmented or hypopigmented flat wart-like papules, irregular reddish brown plaques, seborrheic keratosis-like lesions and pityriasis versicolor-like macules on the trunk, neck, face, dorsal hands and feet (sun-exposed skin). Various HPV subtypes (HPV5 and HPV8 are found in 80% of cases) can be detected in the cutaneous lesions. Thirty to 60% of patients develop non-melanoma skin cancers, especially squamous cell carcinomas (SCC), during the fourth or fifth decades of life, mainly on sun-exposed areas. Black-skinned patients have a much lower incidence of skin cancer. Most SCC remain local; metastases are uncommon.EtiologyEV can be caused by loss-of-function mutations in either of the 2 adjacent genesEVER1/TMC6 or EVER2/TMC8 (17q25.3) coding for membrane proteins that form a complex with the Zinc transporter protein ZnT-1 in the endoplasmic reticulum (ER) membrane of keratinocytes. The mutations in these genes lead to susceptibility to infection with specific HPV subtypes belonging to the beta genus, including HPV5, 8, 9, 12, 14, 15, 17, 19-25, 36-38, 47 and 49, which are ubiquitous and harmless to healthy individuals.Diagnostic methodsDiagnosis is based on clinical and histological findings. Skin biopsy shows verruca plana-like lesions with mild hyperkeratosis, hypergranulosis and acanthosis of the epidermis. Keratinocytes of the upper epidermal layers are enlarged with perinuclear vacuolization and a typical blue-gray pallor. HPVs can be detected in keratinocytes using in situ hybridization or immunohistochemistry with anti-HPV antibodies.Differential diagnosisDifferential diagnosis includes squamous cell carcinoma, acrokeratosis verruciformis (see these terms), tinea versicolor, and generalized verrucosis of other origin. In addition, an acquired epidermodysplasia verruciformis-like syndrome has been described in patients with impaired cell-mediated immunity, mainly HIV-infected subjects.Genetic counselingIn most cases, transmission is autosomal recessive but sex-linked and autosomal dominant inheritance patterns have also been reported.Management and treatmentAlthough permanent cure of EV cannot be achieved by any therapy at present, described treatment modalities include cryotherapy, topical imiquimod and 5-fluorouracil, systemic retinoids, interferon alpha, and 5-aminolevulinic acid photodynamic therapy. Surgical excision is the treatment of choice for SCC. Preventive measures, in particular sun exposure avoidance and photoprotection, are crucial for proper management.PrognosisPrognosis is favorable since skin tumors appear progressively and metastases are uncommon.Visit the Orphanet disease page for more resources.

MalaCards based summary : Epidermodysplasia Verruciformis, also known as lutz-lewandowsky epidermodysplasia verruciformis, is related to tuberculoid leprosy and lipoid proteinosis of urbach and wiethe, and has symptoms including lesions on the body An important gene associated with Epidermodysplasia Verruciformis is TMC6 (Transmembrane Channel Like 6), and among its related pathways/superpathways is Glypican 1 network. The drugs Abraxane and Abstral have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and b cells, and related phenotypes are hypopigmented skin patches and telangiectasia of the skin

Disease Ontology : 12 An autosomal recessive disease that results in skin squamous cell carcinoma located in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has symptom lesions on the body.

OMIM : 57 Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer (Ramoz et al., 2000). EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas. (226400)

UniProtKB/Swiss-Prot : 75 Epidermodysplasia verruciformis: Rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions.

Wikipedia : 76 Epidermodysplasia verruciformis (EV), also known as treeman syndrome, is an extremely rare autosomal... more...

Related Diseases for Epidermodysplasia Verruciformis

Diseases related to Epidermodysplasia Verruciformis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 tuberculoid leprosy 30.4 CORO1A TGFB1
2 lipoid proteinosis of urbach and wiethe 30.1 ECM1 KRT14 TMC6 TMC8
3 epidermodysplasia verruciformis, x-linked 12.4
4 t-cell immunodeficiency with epidermodysplasia verruciformis 12.4
5 squamous cell carcinoma 10.8
6 papilloma 10.6
7 lymphoma 10.5
8 keratosis 10.5
9 bowen's disease 10.5
10 human immunodeficiency virus infectious disease 10.4
11 viral infectious disease 10.4
12 systemic lupus erythematosus 10.4
13 melanoma 10.4
14 merkel cell carcinoma 10.4
15 lupus erythematosus 10.4
16 psoriasis 10.4
17 molluscum contagiosum 10.3
18 common variable immunodeficiency 10.2
19 hepatitis 10.2
20 hepatitis b 10.2
21 acanthoma 10.2
22 rhabdomyosarcoma 10.2
23 combined t cell and b cell immunodeficiency 10.2
24 pityriasis versicolor 10.2 TMC6 TMC8
25 superficial mycosis 10.2 TMC6 TMC8
26 basal cell carcinoma, infundibulocystic 10.1 KRT10 KRT14
27 acrokeratosis verruciformis 10.1
28 hepatocellular carcinoma 10.1
29 neurofibromatosis, type i 10.1
30 schimmelpenning-feuerstein-mims syndrome 10.1
31 severe combined immunodeficiency with sensitivity to ionizing radiation 10.1
32 dermatitis, atopic 10.1
33 cervical cancer 10.1
34 panbronchiolitis, diffuse 10.1
35 factor v and factor viii, combined deficiency of, 2 10.1
36 myelodysplastic syndrome 10.1
37 graft-versus-host disease 10.1
38 immunodeficiency 13 10.1
39 adult t-cell leukemia 10.1
40 b-cell lymphomas 10.1
41 leukemia 10.1
42 autosomal recessive disease 10.1
43 cutaneous t cell lymphoma 10.1
44 lepromatous leprosy 10.1
45 cryptococcosis 10.1
46 ichthyosis 10.1
47 conjunctival squamous cell carcinoma 10.1
48 malignant skin fibrous histiocytoma 10.1
49 dermatitis 10.1
50 dyskeratosis congenita 10.1

Graphical network of the top 20 diseases related to Epidermodysplasia Verruciformis:



Diseases related to Epidermodysplasia Verruciformis

Symptoms & Phenotypes for Epidermodysplasia Verruciformis

Symptoms via clinical synopsis from OMIM:

57
Skin:
basal cell carcinoma
epidermodysplasia verruciformis
verrucae planae

Lab:
epidermal cell vacuolization


Clinical features from OMIM:

226400

Symptoms:

12
  • lesions on the body

Human phenotypes related to Epidermodysplasia Verruciformis:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmented skin patches 59 32 frequent (33%) Frequent (79-30%) HP:0001053
2 telangiectasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0100585
3 multiple cafe-au-lait spots 59 32 frequent (33%) Frequent (79-30%) HP:0007565
4 seborrheic dermatitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001051
5 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
6 recurrent skin infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0001581
7 verrucae 59 32 hallmark (90%) Very frequent (99-80%) HP:0200043
8 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
9 pustule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200039
10 skin plaque 59 32 hallmark (90%) Very frequent (99-80%) HP:0200035
11 abnormality of metabolism/homeostasis 32 HP:0001939
12 abnormality of the immune system 59 Very frequent (99-80%)
13 basal cell carcinoma 32 HP:0002671

Drugs & Therapeutics for Epidermodysplasia Verruciformis

FDA approved drugs:

(show top 50) (show all 228)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Abraxane 18 49 PACLITAXEL Celgene October 2012
2
Abstral 18 FENTANYL (citrate) ProStrakan January 2011
3
Actiq 18 FENTANYL (citrate) Anesta Corporation November 1998
4
Adcetris 18 49 BRENTUXIMAB VEDOTIN Seattle Genetics August 2011
5
Afinitor 18 49 EVEROLIMUS Novartis March 2009
6
Akynzeo 18 49 NETUPITANT AND PALONOSETRON (hydrochloride) Helsinn October 2014
7
Alimta 18 49 PEMETREXED (also Pemetrexed Disodium) Eli Lilly February 2004
8
Aloxi 18 49 PALONOSETRON (hydrochloride) MGI Pharma, Helsinn Healthcare August 2003
9
Anexsia 18 ACETAMINOPHEN; HYDROCODONE BITARTRATE Mallinckrodt Group August 1996
10
Anzemet 18 DOLASETRON MESYLATE Hoechst Marion Roussel February 1998
11
Aredia 18 49 PAMIDRONATE DISODIUM Chiron August 1996
12
Arimidex 18 49 ANASTROZOLE AstraZeneca January 1996
13
Aromasin Tablets 18 49 EXEMESTANE Pharmacia & Upjohn October 21. 1999
14
Arranon 18 49 NELARABINE GlaxoSmithKline October 2005
15
Arzerra 18 49 OFATUMUMAB GlaxoSmithKline October 2009
16
Avastin 18 49 BEVACIZUMAB Genentech July 2009
17
Beleodaq 18 49 BELINOSTAT Spectrum Pharmaceuticals July 2014
18
Bexxar 18 49 TOSITUMOMAB; IODINE I 131 TOSITUMOMAB Corixa June 2003
19
Blincyto 18 49 BLINATUMOMAB Amgen December 2014
20
Bosulif 18 49 BOSUTINIB MONOHYDRATE Pfizer September 2012
21
Busulfex 18 49 BUSULFAN Orphan Medical February 1999
22
Campath 18 49 ALEMTUZUMAB Berlex Laboratories May 2001
23
Cervarix 18 49 Human Papillomavirus Bivalent (Types 16 and 18) Vaccine, Recombinant GlaxoSmithKline October 2009
24
Clolar 18 49 CLOFARABINE Genzyme December, 2004
25
Cometriq 18 49 CABOZANTINIB S-MALATE Exelixis November 2012
26
Cyramza 18 49 RAMUCIRUMAB Eli Lilly April 2014
27
Degarelix 18 49 degarelix Ferring Pharmaceuticals December of 2008
28
Doxil 18 49 DOXORUBICIN HYDROCHLORIDE Alza June 1999
29
Elitek 18 49 RASBURICASE sanofi-aventis October 2009
30
Ellence 18 49 EPIRUBICIN HYDROCHLORIDE Pharmacia & Upjohn September 1999
31
Eloxatin 18 49 OXALIPLATIN Sanofi-aventis August 2002
32
Emend 18 49 APREPITANT FOSAPREPITANT DIMEGLUMINE Merck March 2003
33
Erbitux 18 49 CETUXIMAB Imclone, Bristol-Myers Squibb February 2004
34
Erivedge 18 49 VISMODEGIB Genentech January 2012
35
Erwinaze 18 49 asparaginase Erwinia chrysanthemi Eusa Pharma November of 2011
36
Ethyol 18 AMIFOSTINE Alza December 8, 1995
37
Eulexin 18 FLUTAMIDE Schering-Plough June 1996
38
Evista 18 49 RALOXIFENE HYDROCHLORIDE Eli Lilly September 2007
39
Farydak 18 49 PANOBINOSTAT LACTATE Novartis February 2015
40
Faslodex 18 49 FULVESTRANT AstraZeneca April 2002
41
Femara 18 49 LETROZOLE Novartis January 2001
42
Folotyn 18 49 PRALATREXATE Allos Therapeutics September 2009
43
Fusilev 18 LEVOLEUCOVORIN CALCIUM Spectrum Pharmaceuticals March of 2008
44
Gardasil 18 49 quadrivalent human papillomavirus (types 6, 11, 16, 18) recombinant vaccine Merck June 2006
45
Gazyva 18 49 OBINUTUZUMAB Genentech October of 2013
46
Gemzar 18 49 GEMCITABINE HYDROCHLORIDE Eli Lilly May 1996
47
Gilotrif 18 49 AFATINIB DIMALEATE Boehringer Ingelheim July 2013
48
Gleevec 18 49 IMATINIB MESYLATE Novartis May 2001
49
Gliadel Wafer 18 49 CARMUSTINE Rhone-Poulenc Rorer, Guilford Pharmaceuticals February 1997
50
Halaven 18 49 ERIBULIN MESYLATE Eisai November 2010

Drugs for Epidermodysplasia Verruciformis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycolic acid Approved, Investigational Not Applicable 79-14-1 757
2
Ethanol Approved Not Applicable 64-17-5 702
3 Dermatologic Agents Not Applicable
4 Keratolytic Agents Not Applicable
5 Anti-Infective Agents Not Applicable
6 Pharmaceutical Solutions Not Applicable
7 Central Nervous System Depressants Not Applicable
8 Anti-Infective Agents, Local Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Acquired Epidermodysplasia Verruciformis (EV) Syndrome in HIV-infected Pediatric Patients Completed NCT01289171 Not Applicable Glycolic acid
2 Evaluation of the Effectiveness of an Alcohol Based Hand Gel for the Reduction of Warts on the Hands Completed NCT00973856 Not Applicable

Search NIH Clinical Center for Epidermodysplasia Verruciformis

Cochrane evidence based reviews: epidermodysplasia verruciformis

Genetic Tests for Epidermodysplasia Verruciformis

Genetic tests related to Epidermodysplasia Verruciformis:

# Genetic test Affiliating Genes
1 Epidermodysplasia Verruciformis 29 TMC6 TMC8

Anatomical Context for Epidermodysplasia Verruciformis

MalaCards organs/tissues related to Epidermodysplasia Verruciformis:

41
Skin, T Cells, B Cells, Myeloid, Lung, Heart, Spinal Cord

The Foundational Model of Anatomy Ontology organs/tissues related to Epidermodysplasia Verruciformis:

19
Skin

Publications for Epidermodysplasia Verruciformis

Articles related to Epidermodysplasia Verruciformis:

(show top 50) (show all 423)
# Title Authors Year
1
Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses. ( 29946305 )
2018
2
Identification and characterization of two novel Gammapapillomavirus genomes in skin of an immunosuppressed Epidermodysplasia Verruciformis patient. ( 29526719 )
2018
3
Cutaneous squamous cell carcinoma with epidermodysplasia verruciformis-like features in a patient with Schimke immune-osseous dysplasia. ( 29498428 )
2018
4
Chronic Inflammatory Microenvironment in Epidermodysplasia Verruciformis Skin Lesions: Role of the Synergism Between HPV8 E2 and C/EBPI^ to Induce Pro-Inflammatory S100A8/A9 Proteins. ( 29563902 )
2018
5
Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis. ( 30036492 )
2018
6
An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome). ( 30147876 )
2018
7
A novel approach to the classification of epidermodysplasia verruciformis. ( 30156265 )
2018
8
Acquired epidermodysplasia verruciformis in setting of tumor necrosis factor-α inhibitor therapy. ( 30246133 )
2018
9
A CIB1 Splice-site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis. ( 30503243 )
2018
10
Case of diffuse panbronchiolitis developed in a patient with epidermodysplasia verruciformis. ( 28836693 )
2017
11
Acquired Epidermodysplasia Verruciformis and Its Relationship to Immunosuppressive Therapy: Report of a Case and Review of the Literature. ( 28697224 )
2017
12
Comparative study of p16 protein expression in squamous cell carcinomas from patients with epidermodysplasia verruciformis and patients without the disease. ( 28439661 )
2017
13
Benign and malignant hybrid adnexal tumors in a patient with epidermodysplasia verruciformis. ( 28796338 )
2017
14
Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. ( 28822832 )
2017
15
A novel homozygous DOCK8 mutation associated with unusual coexistence of gross molluscum contagiosum and epidermodysplasia verruciformis in a DOCK8 deficiency patient. ( 28670845 )
2017
16
Perianal Epidermodysplasia Verruciformis Associated With Human Papillomavirus 5 After a Renal Transplant. ( 28504981 )
2017
17
Re-evaluation of epidermodysplasia verruciformis: Reconciling more than 90A years of debate. ( 28196644 )
2017
18
Epidermodysplasia Verruciformis-like HPV infection of the Vulva in Immunosuppressed Women. ( 28700430 )
2017
19
Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease. ( 28646613 )
2017
20
A case of acquired epidermodysplasia verruciformis in a renal transplant recipient clearing with multimodal treatment including HPV (Gardasil) vaccination. ( 28718200 )
2017
21
Eccrine Syringofibroadenoma in Association With Acquired Epidermodysplasia Verruciformis. ( 28346303 )
2017
22
Epidermodysplasia verruciformis: three case reports and a brief review. ( 28941263 )
2017
23
Acquired epidermodysplasia verruciformis occurring in a renal transplant recipient. ( 28632809 )
2017
24
Epidermodysplasia verruciformis in an adult patient with a germline Interleukin-2 inducible T-Cell Kinase mutation and lymphoma: the case of inherited versus acquired. ( 29237091 )
2017
25
Identification of the LCK mutation in an atypical epidermodysplasia verruciformis family with T cell defects and virus-induced squamous cell carcinoma. ( 27087313 )
2016
26
Acquired Epidermodysplasia Verruciformis Associated with Human Papilloma Virus Type 14 in a Small Bowel Transplanted Child--A Case Report. ( 26646304 )
2016
27
Treatment of Imiquimod Resistant Epidermodysplasia Verruciformis With Ingenol Mebutate. ( 26954321 )
2016
28
Acquired epidermodysplasia verruciformis associated with human papillomavirus type 47 in a HIV-infected patient. ( 26778636 )
2016
29
Epidermodysplasia verruciformis and the risk for malignancy. ( 27874888 )
2016
30
Epidermodysplasia verruciformis-related human papillomavirus 76 was isolated from plantar warts of a healthy individual. ( 26775884 )
2016
31
Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. ( 27568080 )
2016
32
The EVER genes - the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients. ( 27279814 )
2016
33
Acrokeratosis Verruciformis of Hopf Clinically Mimicking Epidermodysplasia Verruciformis. ( 27057054 )
2016
34
Expanding genetics and phenotypic spectrum of epidermodysplasia verruciformis. ( 27996151 )
2016
35
Sebaceous cell carcinoma developing in epidermodysplasia verruciformis. ( 26858060 )
2016
36
Sebaceous cell carcinoma developing in epidermodysplasia verruciformis. ( 27279310 )
2016
37
Acquired epidermodysplasia verruciformis, a new opportunistic infection related to bendamustine. ( 25677268 )
2015
38
Remission of an epidermodysplasia verruciformis-like eruption in an HIV-positive man long after immune restoration. ( 26243233 )
2015
39
Possible association between actinic keratosis and the rs7208422 (c.917Aa89T, p.N306l) polymorphism of the EVER2 gene in patients without epidermodysplasia verruciformis. ( 25495765 )
2015
40
Genetic variations in the epidermodysplasia verruciformis (EVER/TMC) genes, cutaneous human papillomavirus infection and squamous cell carcinoma of the skin. ( 26126409 )
2015
41
Deleterious Effect of Radiation Therapy on Epidermodysplasia Verruciformis Patients. ( 26156649 )
2015
42
Cornoid Lamella-Like Structures in HIV-Associated Epidermodysplasia Verruciformis: A Unique Histopathologic Finding. ( 26588337 )
2015
43
Acquired epidermodysplasia verruciformis in an HIV-positive patient. ( 26516132 )
2015
44
Epidermodysplasia verruciformis: successful treatment with squaric acid dibutylester. ( 26367749 )
2015
45
Bilateral recurrent ocular surface squamous cell cancer associated with epidermodysplasia verruciformis. ( 25636630 )
2015
46
Adult T-cell Lymphoma Complicated with Epidermodysplasia Verruciformis-like Eruptions. ( 26724886 )
2015
47
Merkel cell polyomavirus-positive Merkel cell carcinoma in a patient with epidermodysplasia verruciformis. ( 24710670 )
2015
48
Brazilian waxing and human papillomavirus: a case of acquired epidermodysplasia verruciformis. ( 25183723 )
2015
49
Acquired epidermodysplasia verruciformis in a renal transplant recipient--case report. ( 24626660 )
2014
50
Characterization of skin lesions induced by skin-tropic I+- and I^-papillomaviruses in a patient with epidermodysplasia verruciformis. ( 24902472 )
2014

Variations for Epidermodysplasia Verruciformis

ClinVar genetic disease variations for Epidermodysplasia Verruciformis:

6 (show top 50) (show all 195)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMC8 TMC8, 1-BP DEL, 754T deletion Pathogenic
2 TMC8 NM_152468.4(TMC8): c.1084G> T (p.Glu362Ter) single nucleotide variant Pathogenic rs121908330 GRCh37 Chromosome 17, 76131047: 76131047
3 TMC8 NM_152468.4(TMC8): c.1084G> T (p.Glu362Ter) single nucleotide variant Pathogenic rs121908330 GRCh38 Chromosome 17, 78134966: 78134966
4 TMC6 NM_007267.7(TMC6): c.280C> T (p.Arg94Ter) single nucleotide variant Pathogenic rs121908327 GRCh37 Chromosome 17, 76121957: 76121957
5 TMC6 NM_007267.7(TMC6): c.280C> T (p.Arg94Ter) single nucleotide variant Pathogenic rs121908327 GRCh38 Chromosome 17, 78125876: 78125876
6 TMC6 NM_007267.7(TMC6): c.1726G> T (p.Glu576Ter) single nucleotide variant Pathogenic rs121908328 GRCh37 Chromosome 17, 76115463: 76115463
7 TMC6 NM_007267.7(TMC6): c.1726G> T (p.Glu576Ter) single nucleotide variant Pathogenic rs121908328 GRCh38 Chromosome 17, 78119382: 78119382
8 TMC6 NM_007267.7(TMC6): c.744C> A (p.Tyr248Ter) single nucleotide variant Pathogenic rs121908329 GRCh37 Chromosome 17, 76120752: 76120752
9 TMC6 NM_007267.7(TMC6): c.744C> A (p.Tyr248Ter) single nucleotide variant Pathogenic rs121908329 GRCh38 Chromosome 17, 78124671: 78124671
10 TMC6 NM_007267.7(TMC6): c.892-2A> T single nucleotide variant Pathogenic rs769471844 GRCh37 Chromosome 17, 76120262: 76120262
11 TMC6 NM_007267.7(TMC6): c.892-2A> T single nucleotide variant Pathogenic rs769471844 GRCh38 Chromosome 17, 78124181: 78124181
12 TMC8 NC_000017.11: g.(?_78137697)_(78137834_?)del deletion Pathogenic GRCh37 Chromosome 17, 76133778: 76133915
13 TMC8 NC_000017.11: g.(?_78137697)_(78137834_?)del deletion Pathogenic GRCh38 Chromosome 17, 78137697: 78137834
14 TMC6 NM_007267.7(TMC6): c.2355-4G> A single nucleotide variant Benign rs79153946 GRCh37 Chromosome 17, 76109296: 76109296
15 TMC6 NM_007267.7(TMC6): c.2355-4G> A single nucleotide variant Benign rs79153946 GRCh38 Chromosome 17, 78113215: 78113215
16 TMC6 NM_007267.7(TMC6): c.1276G> A (p.Gly426Arg) single nucleotide variant Benign rs61744921 GRCh37 Chromosome 17, 76117744: 76117744
17 TMC6 NM_007267.7(TMC6): c.1276G> A (p.Gly426Arg) single nucleotide variant Benign rs61744921 GRCh38 Chromosome 17, 78121663: 78121663
18 TMC6 NM_007267.7(TMC6): c.1139C> T (p.Ala380Val) single nucleotide variant Likely benign rs147856997 GRCh37 Chromosome 17, 76118774: 76118774
19 TMC6 NM_007267.7(TMC6): c.1139C> T (p.Ala380Val) single nucleotide variant Likely benign rs147856997 GRCh38 Chromosome 17, 78122693: 78122693
20 TMC6 NM_007267.7(TMC6): c.890C> T (p.Ala297Val) single nucleotide variant Uncertain significance rs199717203 GRCh37 Chromosome 17, 76120606: 76120606
21 TMC6 NM_007267.7(TMC6): c.890C> T (p.Ala297Val) single nucleotide variant Uncertain significance rs199717203 GRCh38 Chromosome 17, 78124525: 78124525
22 TMC6 NM_007267.7(TMC6): c.859G> A (p.Val287Ile) single nucleotide variant Benign rs8078238 GRCh38 Chromosome 17, 78124556: 78124556
23 TMC6 NM_007267.7(TMC6): c.859G> A (p.Val287Ile) single nucleotide variant Benign rs8078238 GRCh37 Chromosome 17, 76120637: 76120637
24 TMC6 NM_007267.7(TMC6): c.181+6C> T single nucleotide variant Benign rs186208897 GRCh38 Chromosome 17, 78126518: 78126518
25 TMC6 NM_007267.7(TMC6): c.181+6C> T single nucleotide variant Benign rs186208897 GRCh37 Chromosome 17, 76122599: 76122599
26 TMC8 NM_152468.4(TMC8): c.1168G> A (p.Val390Ile) single nucleotide variant Uncertain significance rs150546646 GRCh37 Chromosome 17, 76133356: 76133356
27 TMC8 NM_152468.4(TMC8): c.1168G> A (p.Val390Ile) single nucleotide variant Uncertain significance rs150546646 GRCh38 Chromosome 17, 78137275: 78137275
28 TMC8 NM_152468.4(TMC8): c.1725C> T (p.Val575=) single nucleotide variant Likely benign rs141186150 GRCh38 Chromosome 17, 78138634: 78138634
29 TMC8 NM_152468.4(TMC8): c.1725C> T (p.Val575=) single nucleotide variant Likely benign rs141186150 GRCh37 Chromosome 17, 76134715: 76134715
30 TMC6 NM_007267.7(TMC6): c.2354+10C> T single nucleotide variant Benign rs199765733 GRCh38 Chromosome 17, 78113538: 78113538
31 TMC6 NM_007267.7(TMC6): c.2354+10C> T single nucleotide variant Benign rs199765733 GRCh37 Chromosome 17, 76109619: 76109619
32 TMC6 NM_007267.7(TMC6): c.1961C> T (p.Thr654Met) single nucleotide variant Uncertain significance rs549556408 GRCh38 Chromosome 17, 78117862: 78117862
33 TMC6 NM_007267.7(TMC6): c.1961C> T (p.Thr654Met) single nucleotide variant Uncertain significance rs549556408 GRCh37 Chromosome 17, 76113943: 76113943
34 TMC6 NM_007267.7(TMC6): c.1505C> T (p.Pro502Leu) single nucleotide variant Benign rs75400929 GRCh38 Chromosome 17, 78121043: 78121043
35 TMC6 NM_007267.7(TMC6): c.1505C> T (p.Pro502Leu) single nucleotide variant Benign rs75400929 GRCh37 Chromosome 17, 76117124: 76117124
36 TMC6 NM_007267.7(TMC6): c.1471C> T (p.Arg491Cys) single nucleotide variant Benign rs114853749 GRCh38 Chromosome 17, 78121077: 78121077
37 TMC6 NM_007267.7(TMC6): c.1471C> T (p.Arg491Cys) single nucleotide variant Benign rs114853749 GRCh37 Chromosome 17, 76117158: 76117158
38 TMC6 NM_007267.7(TMC6): c.1200G> A (p.Gln400=) single nucleotide variant Uncertain significance rs770350851 GRCh37 Chromosome 17, 76118713: 76118713
39 TMC6 NM_007267.7(TMC6): c.1200G> A (p.Gln400=) single nucleotide variant Uncertain significance rs770350851 GRCh38 Chromosome 17, 78122632: 78122632
40 TMC8 NM_152468.4(TMC8): c.669-4G> C single nucleotide variant Benign rs8079824 GRCh38 Chromosome 17, 78133849: 78133849
41 TMC8 NM_152468.4(TMC8): c.669-4G> C single nucleotide variant Benign rs8079824 GRCh37 Chromosome 17, 76129930: 76129930
42 TMC6 NM_007267.7(TMC6): c.2011G> A (p.Ala671Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 78117812: 78117812
43 TMC6 NM_007267.7(TMC6): c.2011G> A (p.Ala671Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 76113893: 76113893
44 TMC6 NM_007267.7(TMC6): c.1748G> A (p.Arg583Gln) single nucleotide variant Likely benign rs147815166 GRCh38 Chromosome 17, 78119360: 78119360
45 TMC6 NM_007267.7(TMC6): c.1748G> A (p.Arg583Gln) single nucleotide variant Likely benign rs147815166 GRCh37 Chromosome 17, 76115441: 76115441
46 TMC6 NM_007267.7(TMC6): c.1228-8G> A single nucleotide variant Benign rs150703149 GRCh38 Chromosome 17, 78121719: 78121719
47 TMC6 NM_007267.7(TMC6): c.1228-8G> A single nucleotide variant Benign rs150703149 GRCh37 Chromosome 17, 76117800: 76117800
48 TMC6 NM_007267.7(TMC6): c.838G> A (p.Ala280Thr) single nucleotide variant Benign rs146371375 GRCh38 Chromosome 17, 78124577: 78124577
49 TMC6 NM_007267.7(TMC6): c.838G> A (p.Ala280Thr) single nucleotide variant Benign rs146371375 GRCh37 Chromosome 17, 76120658: 76120658
50 TMC6 NM_007267.7(TMC6): c.704A> G (p.Lys235Arg) single nucleotide variant Benign rs80354176 GRCh38 Chromosome 17, 78124711: 78124711

Cosmic variations for Epidermodysplasia Verruciformis:

9 (show top 50) (show all 574)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM43751 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 14
2 COSM10886 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 14
3 COSM43753 TP53 skin,hand,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 14
4 COSM43537 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 14
5 COSM44923 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 14
6 COSM46278 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 14
7 COSM45145 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 14
8 COSM44274 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 14
9 COSM44306 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 14
10 COSM6903910 NRAS skin,hand,carcinoma,squamous cell carcinoma c.395A>G p.E132G 1:114709624-114709624 14
11 COSM6903840 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.2581T>G p.C861G 1:119949025-119949025 14
12 COSM6903903 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.7078C>A p.Q2360K 1:119915644-119915644 14
13 COSM6903895 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.6662T>C p.V2221A 1:119916060-119916060 14
14 COSM6903851 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3425C>T p.T1142I 1:119937379-119937379 14
15 COSM6903819 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.863C>T p.P288L 1:119986971-119986971 14
16 COSM3472335 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1340G>A p.G447D 1:119967546-119967546 14
17 COSM4422818 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.5123C>T p.S1708F 1:119922326-119922326 14
18 COSM6903821 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.988T>C p.W330R 1:119969631-119969631 14
19 COSM6903885 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.5782-1G>A p.? 1:119918554-119918554 14
20 COSM6903832 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1800G>A p.M600I 1:119963689-119963689 14
21 COSM6903902 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.6964C>T p.P2322S 1:119915758-119915758 14
22 COSM6903869 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.4966C>T p.Q1656* 1:119922672-119922672 14
23 COSM6903820 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.872C>T p.T291I 1:119986962-119986962 14
24 COSM6903846 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3100T>C p.C1034R 1:119940638-119940638 14
25 COSM4891299 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3293G>A p.C1098Y 1:119937901-119937901 14
26 COSM6903829 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1640G>A p.C547Y 1:119965494-119965494 14
27 COSM6903669 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4160C>T p.A1387V 9:136505736-136505736 14
28 COSM6903567 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1433G>A p.C478Y 9:136517760-136517760 14
29 COSM3215961 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4411G>A p.A1471T 9:136505485-136505485 14
30 COSM6903597 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.2536C>T p.Q846* 9:136511203-136511203 14
31 COSM6903555 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1280G>A p.G427D 9:136517913-136517913 14
32 COSM6903782 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6787C>T p.R2263W 9:136496952-136496952 14
33 COSM4493469 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.415C>T p.Q139* 9:136523177-136523177 14
34 COSM99651 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1093C>T p.R365C 9:136518597-136518597 14
35 COSM6903978 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4435T>G p.C1479G 9:136505461-136505461 14
36 COSM5575656 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.5057T>C p.V1686A 9:136503292-136503292 14
37 COSM120968 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1270G>A p.E424K 9:136517923-136517923 14
38 COSM43356 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6979C>T p.R2327W 9:136496760-136496760 14
39 COSM6903780 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6757C>A p.P2253T 9:136496982-136496982 14
40 COSM6903571 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1522A>T p.K508* 9:136517305-136517305 14
41 COSM6903770 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.6160A>T p.K2054* 9:136498919-136498919 14
42 COSM6903625 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.3172-1G>A p.? 9:136508386-136508386 14
43 COSM6903980 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4435T>C p.C1479R 9:136505461-136505461 14
44 COSM6903758 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.5624A>G p.N1875S 9:136501762-136501762 14
45 COSM6903679 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4202G>A p.G1401E 9:136505694-136505694 14
46 COSM6903525 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.389C>G p.P130R 9:136523731-136523731 14
47 COSM6903659 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.4037A>G p.E1346G 9:136505859-136505859 14
48 COSM6903803 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.7577A>G p.H2526R 9:136496162-136496162 14
49 COSM4449983 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.403+1G>A p.? 9:136523716-136523716 14
50 COSM1217603 NOTCH1 skin,hand,carcinoma,squamous cell carcinoma c.1393G>A p.A465T 9:136517800-136517800 14

Expression for Epidermodysplasia Verruciformis

Search GEO for disease gene expression data for Epidermodysplasia Verruciformis.

Pathways for Epidermodysplasia Verruciformis

Pathways related to Epidermodysplasia Verruciformis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.04 LCK TGFB1

GO Terms for Epidermodysplasia Verruciformis

Cellular components related to Epidermodysplasia Verruciformis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.73 TMC1 TMC2 TMC3 TMC4 TMC6 TMC8
2 extracellular exosome GO:0070062 9.56 CORO1A ECM1 KRT10 KRT14 LCK TMC4
3 stereocilium tip GO:0032426 9.16 TMC1 TMC2
4 immunological synapse GO:0001772 8.8 CORO1A LCK RHOH

Biological processes related to Epidermodysplasia Verruciformis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.72 TMC1 TMC2 TMC3 TMC6 TMC8
2 ion transmembrane transport GO:0034220 9.56 TMC3 TMC4 TMC6 TMC8
3 T cell homeostasis GO:0043029 9.43 CORO1A TGFB1
4 positive regulation of T cell activation GO:0050870 9.4 CORO1A LCK
5 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.37 TMC1 TMC2
6 regulation of calcium ion transmembrane transport GO:1903169 9.16 TMC1 TMC2
7 vestibular reflex GO:0060005 8.96 TMC1 TMC2
8 T cell differentiation GO:0030217 8.8 LCK RHOH TGFB1

Molecular functions related to Epidermodysplasia Verruciformis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.43 CORO1A ECM1 LCK
2 ion channel activity GO:0005216 9.43 TMC1 TMC2 TMC3 TMC4 TMC6 TMC8
3 voltage-gated calcium channel activity GO:0005245 9.32 TMC1 TMC2
4 phosphatidylinositol 3-kinase binding GO:0043548 9.16 CORO1A LCK
5 mechanosensitive ion channel activity GO:0008381 9.1 TMC1 TMC2 TMC3 TMC4 TMC6 TMC8

Sources for Epidermodysplasia Verruciformis

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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69 SNOMED-CT via HPO
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