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EV1
MCID: EPD083
MIFTS: 54

Epidermodysplasia Verruciformis 1 (EV1)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Epidermodysplasia Verruciformis 1

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MalaCards integrated aliases for Epidermodysplasia Verruciformis 1:

Name: Epidermodysplasia Verruciformis 1 58
Epidermodysplasia Verruciformis 58 12 77 54 60 76 38 30 13 56 6 45 15 41
Lutz-Lewandowsky Epidermodysplasia Verruciformis 54 60
Lewandowsky-Lutz Syndrome 54 60
Ev 58 76
Epidermodysplasia Verruciformis, Susceptibility to, 1 58
Epidermodysplasia Verruciformis; Ev 58
Ev1 58

Characteristics:

Orphanet epidemiological data:

60
epidermodysplasia verruciformis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Skin diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare skin diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:13777
OMIM 58 226400
KEGG 38 H00842
MeSH 45 D004819
NCIt 51 C126877
SNOMED-CT 69 19138001
MESH via Orphanet 46 D004819
ICD10 via Orphanet 35 B07
UMLS via Orphanet 75 C0014522
Orphanet 60 ORPHA302
MedGen 43 C0014522
UMLS 74 C0014522
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Summaries for Epidermodysplasia Verruciformis 1

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NIH Rare Diseases : 54 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 1, also known as epidermodysplasia verruciformis, is related to epidermodysplasia verruciformis, x-linked and epidermodysplasia verruciformis 2, and has symptoms including lesions on the body An important gene associated with Epidermodysplasia Verruciformis 1 is TMC6 (Transmembrane Channel Like 6), and among its related pathways/superpathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. The drugs Glycolic acid and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include skin, skin and t cells, and related phenotypes are seborrheic dermatitis and papule

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 : 58 Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer. 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 (summary by Ramoz et al., 2000). (226400)

UniProtKB/Swiss-Prot : 76 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 : 77 Epidermodysplasia verruciformis (EV), also known as treeman syndrome, is an extremely rare autosomal... more...

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Related Diseases for Epidermodysplasia Verruciformis 1

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Diseases in the Epidermodysplasia Verruciformis 1 family:

Epidermodysplasia Verruciformis 2 Epidermodysplasia Verruciformis 3
Epidermodysplasia Verruciformis 4 Epidermodysplasia Verruciformis 5

Diseases related to Epidermodysplasia Verruciformis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 epidermodysplasia verruciformis, x-linked 12.4
2 epidermodysplasia verruciformis 2 11.1
3 epidermodysplasia verruciformis 3 11.1
4 epidermodysplasia verruciformis 4 11.1
5 epidermodysplasia verruciformis 5 11.1
6 squamous cell carcinoma 10.8
7 skin carcinoma 10.7
8 papilloma 10.6
9 lymphoma 10.6
10 keratosis 10.6
11 bowen's disease 10.5
12 human immunodeficiency virus infectious disease 10.5
13 systemic lupus erythematosus 10.4
14 keratosis, seborrheic 10.4
15 melanoma 10.4
16 merkel cell carcinoma 10.4
17 lymphopenia 10.4
18 lupus erythematosus 10.4
19 psoriasis 10.4
20 squamous cell papilloma 10.4
21 molluscum contagiosum 10.4
22 leprosy 3 10.3
23 common variable immunodeficiency 10.3
24 hepatitis 10.3
25 hepatitis b 10.3
26 leukemia 10.3
27 tuberculoid leprosy 10.3
28 clear cell acanthoma 10.3
29 acanthoma 10.3
30 rhabdomyosarcoma 10.3
31 combined t cell and b cell immunodeficiency 10.3
32 hansen's disease 10.3
33 deafness, autosomal recessive 48 10.2 CIB1 TMC3
34 bowenoid papulosis 10.2
35 pityriasis versicolor 10.2 TMC6 TMC8
36 acrokeratosis verruciformis 10.1
37 hepatocellular carcinoma 10.1
38 neurofibromatosis, type i 10.1
39 neurofibromatosis, type iv, of riccardi 10.1
40 schimmelpenning-feuerstein-mims syndrome 10.1
41 lymphoma, hodgkin, classic 10.1
42 lipoid proteinosis of urbach and wiethe 10.1
43 polycythemia vera 10.1
44 thymoma, familial 10.1
45 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.1
46 yemenite deaf-blind hypopigmentation syndrome 10.1
47 severe combined immunodeficiency with sensitivity to ionizing radiation 10.1
48 dermatitis, atopic 10.1
49 cervical cancer 10.1
50 panbronchiolitis, diffuse 10.1

Graphical network of the top 20 diseases related to Epidermodysplasia Verruciformis 1:



Diseases related to Epidermodysplasia Verruciformis 1
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Symptoms & Phenotypes for Epidermodysplasia Verruciformis 1

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Human phenotypes related to Epidermodysplasia Verruciformis 1:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seborrheic dermatitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001051
2 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
3 recurrent skin infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0001581
4 verrucae 60 33 hallmark (90%) Very frequent (99-80%) HP:0200043
5 pustule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200039
6 skin plaque 60 33 hallmark (90%) Very frequent (99-80%) HP:0200035
7 hypopigmented skin patches 60 33 frequent (33%) Frequent (79-30%) HP:0001053
8 multiple cafe-au-lait spots 60 33 frequent (33%) Frequent (79-30%) HP:0007565
9 telangiectasia of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0100585
10 squamous cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002860
11 abnormality of metabolism/homeostasis 33 HP:0001939
12 abnormality of the immune system 60 Very frequent (99-80%)
13 basal cell carcinoma 33 HP:0002671

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
basal cell carcinoma
epidermodysplasia verruciformis
verrucae planae
pityriasis versicolor-like lesions, disseminated
cutaneous bowen carcinomas

Immunology:
susceptibility to human papillomavirus (hpv) genotypes

Neoplasia:
basal cell carcinoma
cutaneous bowen carcinomas

Laboratory Abnormalities:
epidermal cell vacuolization

Clinical features from OMIM:

226400

Symptoms:

12
  • • lesions on the body

GenomeRNAi Phenotypes related to Epidermodysplasia Verruciformis 1 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.58 BAZ2A CIB1 CORO1A DCAF7 IL7 ITK
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Drugs & Therapeutics for Epidermodysplasia Verruciformis 1

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Drugs for Epidermodysplasia Verruciformis 1 (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 Keratolytic Agents Not Applicable
4 Dermatologic Agents Not Applicable
5 Pharmaceutical Solutions Not Applicable
6 Anti-Infective Agents 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 1

Cochrane evidence based reviews: epidermodysplasia verruciformis

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Genetic Tests for Epidermodysplasia Verruciformis 1

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Genetic tests related to Epidermodysplasia Verruciformis 1:

# Genetic test Affiliating Genes
1 Epidermodysplasia Verruciformis 30 TMC6
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Anatomical Context for Epidermodysplasia Verruciformis 1

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The Foundational Model of Anatomy Ontology organs/tissues related to Epidermodysplasia Verruciformis 1:

20
Skin

MalaCards organs/tissues related to Epidermodysplasia Verruciformis 1:

42
Skin, T Cells, Prostate, Myeloid, B Cells, Thyroid, Eye
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Publications for Epidermodysplasia Verruciformis 1

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Articles related to Epidermodysplasia Verruciformis 1:

(show top 50) (show all 432)
# Title Authors Year
1
A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis. ( 30612220 )
2019
2
Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma. ( 30778533 )
2019
3
Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis. ( 30036492 )
2019
4
A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis. ( 30503243 )
2019
5
Epidermodysplasia verruciformis in a young adult with activated PI3Kδ syndrome. ( 30740505 )
2019
6
Diagnosis of Epidermodysplasia Verruciformis: Two Cases Highlighting the Role of Direct HPV L1 Gene Sequencing. ( 30773702 )
2019
7
Dermoscopic and reflectance confocal microscopic features of epidermodysplasia verruciformis. ( 30802999 )
2019
8
New biomarkers of human papillomavirus infection in epidermodysplasia verruciformis. ( 31075668 )
2019
9
Epidermodysplasia Verruciformis-like HPV Infection of the Vulva in Immunosuppressed Women. ( 28700430 )
2018
10
A case of acquired epidermodysplasia verruciformis in a renal transplant recipient clearing with multimodal treatment including HPV (Gardasil) vaccination. ( 28718200 )
2018
11
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 )
2018
12
Cutaneous squamous cell carcinoma with epidermodysplasia verruciformis-like features in a patient with Schimke immune-osseous dysplasia. ( 29498428 )
2018
13
Identification and characterization of two novel Gammapapillomavirus genomes in skin of an immunosuppressed Epidermodysplasia Verruciformis patient. ( 29526719 )
2018
14
Chronic Inflammatory Microenvironment in Epidermodysplasia Verruciformis Skin Lesions: Role of the Synergism Between HPV8 E2 and C/EBPβ to Induce Pro-Inflammatory S100A8/A9 Proteins. ( 29563902 )
2018
15
Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses. ( 29946305 )
2018
16
An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome). ( 30147876 )
2018
17
A novel approach to the classification of epidermodysplasia verruciformis. ( 30156265 )
2018
18
Acquired epidermodysplasia verruciformis in setting of tumor necrosis factor-α inhibitor therapy. ( 30246133 )
2018
19
A novel homozygous DOCK8 mutation associated with unusual coexistence of gross molluscum contagiosum and epidermodysplasia verruciformis in a DOCK8 deficiency patient. ( 28670845 )
2017
20
Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. ( 27568080 )
2017
21
Re-evaluation of epidermodysplasia verruciformis: Reconciling more than 90 years of debate. ( 28196644 )
2017
22
Eccrine Syringofibroadenoma in Association With Acquired Epidermodysplasia Verruciformis. ( 28346303 )
2017
23
Comparative study of p16 protein expression in squamous cell carcinomas from patients with epidermodysplasia verruciformis and patients without the disease. ( 28439661 )
2017
24
Perianal Epidermodysplasia Verruciformis Associated With Human Papillomavirus 5 After a Renal Transplant. ( 28504981 )
2017
25
Acquired epidermodysplasia verruciformis occurring in a renal transplant recipient. ( 28632809 )
2017
26
Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease. ( 28646613 )
2017
27
Acquired Epidermodysplasia Verruciformis and Its Relationship to Immunosuppressive Therapy: Report of a Case and Review of the Literature. ( 28697224 )
2017
28
Benign and malignant hybrid adnexal tumors in a patient with epidermodysplasia verruciformis. ( 28796338 )
2017
29
Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. ( 28822832 )
2017
30
Case of diffuse panbronchiolitis developed in a patient with epidermodysplasia verruciformis. ( 28836693 )
2017
31
Epidermodysplasia verruciformis: three case reports and a brief review. ( 28941263 )
2017
32
Acrokeratosis Verruciformis of Hopf Clinically Mimicking Epidermodysplasia Verruciformis. ( 27057054 )
2016
33
Acquired Epidermodysplasia Verruciformis Associated with Human Papilloma Virus Type 14 in a Small Bowel Transplanted Child--A Case Report. ( 26646304 )
2016
34
Acquired epidermodysplasia verruciformis in an HIV-positive patient. ( 26516132 )
2016
35
Epidermodysplasia verruciformis-related human papillomavirus 76 was isolated from plantar warts of a healthy individual. ( 26775884 )
2016
36
Acquired epidermodysplasia verruciformis associated with human papillomavirus type 47 in a HIV-infected patient. ( 26778636 )
2016
37
Treatment of Imiquimod Resistant Epidermodysplasia Verruciformis With Ingenol Mebutate. ( 26954321 )
2016
38
Identification of LCK mutation in a family with atypical epidermodysplasia verruciformis with T-cell defects and virus-induced squamous cell carcinoma. ( 27087313 )
2016
39
Sebaceous cell carcinoma developing in epidermodysplasia verruciformis. ( 27279310 )
2016
40
The EVER genes - the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients. ( 27279814 )
2016
41
Epidermodysplasia verruciformis and the risk for malignancy. ( 27874888 )
2016
42
Expanding genetics and phenotypic spectrum of epidermodysplasia verruciformis. ( 27996151 )
2016
43
Possible association between actinic keratosis and the rs7208422 (c.917A→T, p.N306l) polymorphism of the EVER2 gene in patients without epidermodysplasia verruciformis. ( 25495765 )
2015
44
Merkel cell polyomavirus-positive Merkel cell carcinoma in a patient with epidermodysplasia verruciformis. ( 24710670 )
2015
45
Brazilian waxing and human papillomavirus: a case of acquired epidermodysplasia verruciformis. ( 25183723 )
2015
46
Expression of the epidermodysplasia verruciformis-associated genes EVER1 and EVER2 is activated by exogenous DNA and inhibited by LMP1 oncoprotein from Epstein-Barr virus. ( 25378492 )
2015
47
Bilateral recurrent ocular surface squamous cell cancer associated with epidermodysplasia verruciformis. ( 25636630 )
2015
48
Acquired epidermodysplasia verruciformis, a new opportunistic infection related to bendamustine. ( 25677268 )
2015
49
Genetic variations in the epidermodysplasia verruciformis (EVER/TMC) genes, cutaneous human papillomavirus infection and squamous cell carcinoma of the skin. ( 26126409 )
2015
50
Deleterious Effect of Radiation Therapy on Epidermodysplasia Verruciformis Patients. ( 26156649 )
2015
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Variations for Epidermodysplasia Verruciformis 1

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ClinVar genetic disease variations for Epidermodysplasia Verruciformis 1:

6 (show top 50) (show all 200)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMC6 NM_007267.7(TMC6): c.280C> T (p.Arg94Ter) single nucleotide variant risk factor rs121908327 GRCh37 Chromosome 17, 76121957: 76121957
2 TMC6 NM_007267.7(TMC6): c.280C> T (p.Arg94Ter) single nucleotide variant risk factor rs121908327 GRCh38 Chromosome 17, 78125876: 78125876
3 TMC6 NM_007267.7(TMC6): c.1726G> T (p.Glu576Ter) single nucleotide variant risk factor rs121908328 GRCh37 Chromosome 17, 76115463: 76115463
4 TMC6 NM_007267.7(TMC6): c.1726G> T (p.Glu576Ter) single nucleotide variant risk factor rs121908328 GRCh38 Chromosome 17, 78119382: 78119382
5 TMC6 NM_007267.7(TMC6): c.744C> A (p.Tyr248Ter) single nucleotide variant risk factor rs121908329 GRCh37 Chromosome 17, 76120752: 76120752
6 TMC6 NM_007267.7(TMC6): c.744C> A (p.Tyr248Ter) single nucleotide variant risk factor rs121908329 GRCh38 Chromosome 17, 78124671: 78124671
7 TMC6 NM_007267.7(TMC6): c.892-2A> T single nucleotide variant risk factor rs769471844 GRCh37 Chromosome 17, 76120262: 76120262
8 TMC6 NM_007267.7(TMC6): c.892-2A> T single nucleotide variant risk factor rs769471844 GRCh38 Chromosome 17, 78124181: 78124181
9 TMC8 NC_000017.11: g.(?_78137697)_(78137834_?)del deletion Pathogenic GRCh37 Chromosome 17, 76133778: 76133915
10 TMC8 NC_000017.11: g.(?_78137697)_(78137834_?)del deletion Pathogenic GRCh38 Chromosome 17, 78137697: 78137834
11 TMC6 NM_007267.7(TMC6): c.2355-4G> A single nucleotide variant Benign rs79153946 GRCh38 Chromosome 17, 78113215: 78113215
12 TMC6 NM_007267.7(TMC6): c.2355-4G> A single nucleotide variant Benign rs79153946 GRCh37 Chromosome 17, 76109296: 76109296
13 TMC6 NM_007267.7(TMC6): c.1276G> A (p.Gly426Arg) single nucleotide variant Benign rs61744921 GRCh37 Chromosome 17, 76117744: 76117744
14 TMC6 NM_007267.7(TMC6): c.1276G> A (p.Gly426Arg) single nucleotide variant Benign rs61744921 GRCh38 Chromosome 17, 78121663: 78121663
15 TMC6 NM_007267.7(TMC6): c.1139C> T (p.Ala380Val) single nucleotide variant Likely benign rs147856997 GRCh37 Chromosome 17, 76118774: 76118774
16 TMC6 NM_007267.7(TMC6): c.1139C> T (p.Ala380Val) single nucleotide variant Likely benign rs147856997 GRCh38 Chromosome 17, 78122693: 78122693
17 TMC6 NM_007267.7(TMC6): c.890C> T (p.Ala297Val) single nucleotide variant Uncertain significance rs199717203 GRCh37 Chromosome 17, 76120606: 76120606
18 TMC6 NM_007267.7(TMC6): c.890C> T (p.Ala297Val) single nucleotide variant Uncertain significance rs199717203 GRCh38 Chromosome 17, 78124525: 78124525
19 TMC6 NM_007267.7(TMC6): c.859G> A (p.Val287Ile) single nucleotide variant Benign rs8078238 GRCh37 Chromosome 17, 76120637: 76120637
20 TMC6 NM_007267.7(TMC6): c.859G> A (p.Val287Ile) single nucleotide variant Benign rs8078238 GRCh38 Chromosome 17, 78124556: 78124556
21 TMC6 NM_007267.7(TMC6): c.181+6C> T single nucleotide variant Benign rs186208897 GRCh37 Chromosome 17, 76122599: 76122599
22 TMC6 NM_007267.7(TMC6): c.181+6C> T single nucleotide variant Benign rs186208897 GRCh38 Chromosome 17, 78126518: 78126518
23 TMC8 NM_152468.4(TMC8): c.1168G> A (p.Val390Ile) single nucleotide variant Uncertain significance rs150546646 GRCh37 Chromosome 17, 76133356: 76133356
24 TMC8 NM_152468.4(TMC8): c.1168G> A (p.Val390Ile) single nucleotide variant Uncertain significance rs150546646 GRCh38 Chromosome 17, 78137275: 78137275
25 TMC8 NM_152468.4(TMC8): c.1725C> T (p.Val575=) single nucleotide variant Likely benign rs141186150 GRCh37 Chromosome 17, 76134715: 76134715
26 TMC8 NM_152468.4(TMC8): c.1725C> T (p.Val575=) single nucleotide variant Likely benign rs141186150 GRCh38 Chromosome 17, 78138634: 78138634
27 TMC6 NM_007267.7(TMC6): c.2354+10C> T single nucleotide variant Benign rs199765733 GRCh38 Chromosome 17, 78113538: 78113538
28 TMC6 NM_007267.7(TMC6): c.2354+10C> T single nucleotide variant Benign rs199765733 GRCh37 Chromosome 17, 76109619: 76109619
29 TMC6 NM_007267.7(TMC6): c.1961C> T (p.Thr654Met) single nucleotide variant Uncertain significance rs549556408 GRCh38 Chromosome 17, 78117862: 78117862
30 TMC6 NM_007267.7(TMC6): c.1961C> T (p.Thr654Met) single nucleotide variant Uncertain significance rs549556408 GRCh37 Chromosome 17, 76113943: 76113943
31 TMC6 NM_007267.7(TMC6): c.1505C> T (p.Pro502Leu) single nucleotide variant Benign rs75400929 GRCh38 Chromosome 17, 78121043: 78121043
32 TMC6 NM_007267.7(TMC6): c.1505C> T (p.Pro502Leu) single nucleotide variant Benign rs75400929 GRCh37 Chromosome 17, 76117124: 76117124
33 TMC6 NM_007267.7(TMC6): c.1471C> T (p.Arg491Cys) single nucleotide variant Benign rs114853749 GRCh38 Chromosome 17, 78121077: 78121077
34 TMC6 NM_007267.7(TMC6): c.1471C> T (p.Arg491Cys) single nucleotide variant Benign rs114853749 GRCh37 Chromosome 17, 76117158: 76117158
35 TMC6 NM_007267.7(TMC6): c.1200G> A (p.Gln400=) single nucleotide variant Uncertain significance rs770350851 GRCh37 Chromosome 17, 76118713: 76118713
36 TMC6 NM_007267.7(TMC6): c.1200G> A (p.Gln400=) single nucleotide variant Uncertain significance rs770350851 GRCh38 Chromosome 17, 78122632: 78122632
37 TMC8 NM_152468.4(TMC8): c.669-4G> C single nucleotide variant Benign rs8079824 GRCh38 Chromosome 17, 78133849: 78133849
38 TMC8 NM_152468.4(TMC8): c.669-4G> C single nucleotide variant Benign rs8079824 GRCh37 Chromosome 17, 76129930: 76129930
39 TMC6 NM_007267.7(TMC6): c.2011G> A (p.Ala671Thr) single nucleotide variant Uncertain significance rs1415810329 GRCh38 Chromosome 17, 78117812: 78117812
40 TMC6 NM_007267.7(TMC6): c.2011G> A (p.Ala671Thr) single nucleotide variant Uncertain significance rs1415810329 GRCh37 Chromosome 17, 76113893: 76113893
41 TMC6 NM_007267.7(TMC6): c.1748G> A (p.Arg583Gln) single nucleotide variant Likely benign rs147815166 GRCh37 Chromosome 17, 76115441: 76115441
42 TMC6 NM_007267.7(TMC6): c.1748G> A (p.Arg583Gln) single nucleotide variant Likely benign rs147815166 GRCh38 Chromosome 17, 78119360: 78119360
43 TMC6 NM_007267.7(TMC6): c.1228-8G> A single nucleotide variant Benign rs150703149 GRCh38 Chromosome 17, 78121719: 78121719
44 TMC6 NM_007267.7(TMC6): c.1228-8G> A single nucleotide variant Benign rs150703149 GRCh37 Chromosome 17, 76117800: 76117800
45 TMC6 NM_007267.7(TMC6): c.838G> A (p.Ala280Thr) single nucleotide variant Benign rs146371375 GRCh38 Chromosome 17, 78124577: 78124577
46 TMC6 NM_007267.7(TMC6): c.838G> A (p.Ala280Thr) single nucleotide variant Benign rs146371375 GRCh37 Chromosome 17, 76120658: 76120658
47 TMC6 NM_007267.7(TMC6): c.704A> G (p.Lys235Arg) single nucleotide variant Benign rs80354176 GRCh37 Chromosome 17, 76120792: 76120792
48 TMC6 NM_007267.7(TMC6): c.704A> G (p.Lys235Arg) single nucleotide variant Benign rs80354176 GRCh38 Chromosome 17, 78124711: 78124711
49 TMC8 NM_152468.4(TMC8): c.1024G> T (p.Gly342Trp) single nucleotide variant Benign rs112802399 GRCh38 Chromosome 17, 78134906: 78134906
50 TMC8 NM_152468.4(TMC8): c.1024G> T (p.Gly342Trp) single nucleotide variant Benign rs112802399 GRCh37 Chromosome 17, 76130987: 76130987

Cosmic variations for Epidermodysplasia Verruciformis 1:

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 COSM44097 TP53 skin,face,carcinoma,NS c.530C>T p.P177L 17:7675082-7675082 0
2 COSM10660 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 0
3 COSM10812 TP53 skin,trunk,carcinoma,NS c.722C>T p.S241F 17:7674241-7674241 0
4 COSM43751 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 0
5 COSM10705 TP53 skin,face,carcinoma,squamous cell carcinoma c.586C>T p.R196* 17:7674945-7674945 0
6 COSM44295 TP53 skin,face,carcinoma,NS c.993+1G>A p.? 17:7673534-7673534 0
7 COSM10939 TP53 skin,face,carcinoma,NS c.832C>T p.P278S 17:7673788-7673788 0
8 COSM43544 TP53 skin,face,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 0
9 COSM43920 TP53 skin,face,other,keratosis c.680C>T p.S227F 17:7674283-7674283 0
10 COSM44326 TP53 skin,face,carcinoma,squamous cell carcinoma c.706T>C p.Y236H 17:7674257-7674257 0
11 COSM10662 TP53 skin,face,carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 0
12 COSM11449 TP53 skin,face,carcinoma,NS c.388C>T p.L130F 17:7675224-7675224 0
13 COSM44068 TP53 skin,face,carcinoma,NS c.532C>A p.H178N 17:7675080-7675080 0
14 COSM10654 TP53 skin,face,carcinoma,NS c.637C>T p.R213* 17:7674894-7674894 0
15 COSM10656 TP53 skin,face,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 0
16 COSM10704 TP53 skin,trunk,carcinoma,NS c.844C>T p.R282W 17:7673776-7673776 0
17 COSM45830 TP53 skin,face,carcinoma,squamous cell carcinoma c.766A>C p.T256P 17:7674197-7674197 0
18 COSM10726 TP53 skin,face,carcinoma,NS c.856G>A p.E286K 17:7673764-7673764 0
19 COSM43714 TP53 skin,trunk,carcinoma,NS c.836G>A p.G279E 17:7673784-7673784 0
20 COSM10992 TP53 skin,face,carcinoma,NS c.844C>G p.R282G 17:7673776-7673776 0
21 COSM45304 TP53 skin,face,carcinoma,squamous cell carcinoma c.375+1G>A p.? 17:7675993-7675993 0
22 COSM43588 TP53 skin,face,carcinoma,squamous cell carcinoma c.740A>C p.N247T 17:7674223-7674223 0
23 COSM10886 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 0
24 COSM11081 TP53 skin,face,carcinoma,squamous cell carcinoma c.733G>T p.G245C 17:7674230-7674230 0
25 COSM11073 TP53 skin,face,carcinoma,NS c.1024C>T p.R342* 17:7670685-7670685 0
26 COSM43582 TP53 skin,face,carcinoma,NS c.454C>T p.P152S 17:7675158-7675158 0
27 COSM45733 TP53 skin,face,carcinoma,NS c.432G>A p.Q144Q 17:7675180-7675180 0
28 COSM45732 TP53 skin,trunk,carcinoma,NS c.480G>C p.M160I 17:7675132-7675132 0
29 COSM43700 TP53 skin,face,carcinoma,NS c.712T>A p.C238S 17:7674251-7674251 0
30 COSM10863 TP53 skin,trunk,carcinoma,NS c.833C>T p.P278L 17:7673787-7673787 0
31 COSM10733 TP53 skin,face,carcinoma,squamous cell carcinoma c.574C>T p.Q192* 17:7674957-7674957 0
32 COSM44227 TP53 skin,face,carcinoma,NS c.854A>T p.E285V 17:7673766-7673766 0
33 COSM10768 TP53 skin,face,carcinoma,NS c.535C>T p.H179Y 17:7675077-7675077 0
34 COSM43651 TP53 skin,face,carcinoma,squamous cell carcinoma c.763A>T p.I255F 17:7674200-7674200 0
35 COSM44435 TP53 skin,face,carcinoma,NS c.96+1G>A p.? 17:7676381-7676381 0
36 COSM43753 TP53 skin,hand,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 0
37 COSM44436 TP53 skin,face,carcinoma,NS c.375+2T>C p.? 17:7675992-7675992 0
38 COSM45734 TP53 skin,trunk,carcinoma,NS c.622G>T p.D208Y 17:7674909-7674909 0
39 COSM43596 TP53 skin,face,carcinoma,NS c.841G>A p.D281N 17:7673779-7673779 0
40 COSM43537 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 0
41 COSM10749 TP53 skin,face,carcinoma,NS c.830G>T p.C277F 17:7673790-7673790 0
42 COSM11084 TP53 skin,face,carcinoma,NS c.517G>A p.V173M 17:7675095-7675095 0
43 COSM43742 TP53 skin,face,carcinoma,NS c.419C>T p.T140I 17:7675193-7675193 0
44 COSM10887 TP53 skin,face,carcinoma,NS c.833C>G p.P278R 17:7673787-7673787 0
45 COSM44923 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 0
46 COSM44241 TP53 skin,face,carcinoma,NS c.592G>T p.E198* 17:7674939-7674939 0
47 COSM43665 TP53 skin,face,carcinoma,squamous cell carcinoma c.746G>C p.R249T 17:7674217-7674217 0
48 COSM46278 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 0
49 COSM45145 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 0
50 COSM44672 TP53 skin,trunk,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 0
Sources

Expression for Epidermodysplasia Verruciformis 1

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Search GEO for disease gene expression data for Epidermodysplasia Verruciformis 1.
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GO Terms for Epidermodysplasia Verruciformis 1

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Cellular components related to Epidermodysplasia Verruciformis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.5 CIB1 SLC30A1 SLC39A13 TAF11 TAF7 TMC6
2 immunological synapse GO:0001772 9.26 CORO1A RHOH
3 transcription factor TFTC complex GO:0033276 9.16 TAF10 TAF7
4 transcription factor TFIID complex GO:0005669 8.92 TAF10 TAF11 TAF13 TAF7

Biological processes related to Epidermodysplasia Verruciformis 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 SLC30A1 SLC39A13 TMC3 TMC6 TMC8
2 transmembrane transport GO:0055085 9.72 SLC30A1 SLC39A13 TMC3 TMC6 TMC8
3 ion transmembrane transport GO:0034220 9.56 TMC3 TMC4 TMC6 TMC8
4 homeostasis of number of cells within a tissue GO:0048873 9.49 CORO1A IL7
5 cellular zinc ion homeostasis GO:0006882 9.48 SLC30A1 SLC39A13
6 zinc ion transport GO:0006829 9.46 SLC30A1 SLC39A13
7 transcription initiation from RNA polymerase II promoter GO:0006367 9.46 TAF10 TAF11 TAF13 TAF7
8 RNA polymerase II preinitiation complex assembly GO:0051123 9.43 TAF11 TAF7
9 zinc ion transmembrane transport GO:0071577 9.37 SLC30A1 SLC39A13
10 DNA-templated transcription, initiation GO:0006352 9.13 TAF10 TAF13 TAF7
11 regulation of signal transduction by p53 class mediator GO:1901796 8.92 TAF10 TAF11 TAF13 TAF7

Molecular functions related to Epidermodysplasia Verruciformis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.46 CIB1 CORO1A SDCBP2 TAF13
2 thyroid hormone receptor binding GO:0046966 9.4 TAF11 TAF7
3 zinc ion transmembrane transporter activity GO:0005385 9.37 SLC30A1 SLC39A13
4 vitamin D receptor binding GO:0042809 9.32 TAF11 TAF7
5 ion channel activity GO:0005216 9.26 TMC3 TMC4 TMC6 TMC8
6 mechanosensitive ion channel activity GO:0008381 8.92 TMC3 TMC4 TMC6 TMC8
7 protein binding GO:0005515 10.16 BAZ2A CIB1 CORO1A DCAF7 IL7 ITK
Sources

Sources for Epidermodysplasia Verruciformis 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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