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EV1
MCID: EPD083
MIFTS: 58

Epidermodysplasia Verruciformis 1 (EV1)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications 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 56 73
Epidermodysplasia Verruciformis 56 12 74 52 58 36 29 13 54 6 43 15
Epidermodysplasia Verruciformis, Susceptibility to, 1 56 29 6
Lutz-Lewandowsky Epidermodysplasia Verruciformis 52 58
Lewandowsky-Lutz Syndrome 52 58
Ev1 56 73
Epidermodysplasia Verruciformis; Ev 56
Ev 56

Characteristics:

Orphanet epidemiological data:

58
epidermodysplasia verruciformis
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
epidermodysplasia verruciformis 1:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Skin diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare skin diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:13777
OMIM 56 226400
OMIM Phenotypic Series 56 PS226400
KEGG 36 H00842
NCIt 49 C126877
SNOMED-CT 67 19138001
MESH via Orphanet 44 D004819
ICD10 via Orphanet 33 B07
UMLS via Orphanet 72 C0014522
Orphanet 58 ORPHA302
UMLS 71 C0014522
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Summaries for Epidermodysplasia Verruciformis 1

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NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 302 Definition Epidermodysplasia 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 . Epidemiology The exact prevalence of EV is unknown; more than 200 cases have been reported in the literature so far. Clinical description The 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. Etiology EV can be caused by loss-of-function mutations in either of the 2 adjacent genes EVER1/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 methods Diagnosis 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 diagnosis Differential 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 counseling In most cases, transmission is autosomal recessive but sex-linked and autosomal dominant inheritance patterns have also been reported. Management and treatment Although 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. Prognosis Prognosis 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 pityriasis versicolor and skin carcinoma, and has symptoms including lesions on the body An important gene associated with Epidermodysplasia Verruciformis 1 is TMC6 (Transmembrane Channel Like 6). The drugs Glycolic acid and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and bone marrow, and related phenotypes are papule and seborrheic dermatitis

Disease Ontology : 12 A primary immunodeficiency 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 : 56 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)

KEGG : 36 Epidermodysplasia verruciformis is a rare genodermatosis characterized by an increased susceptibility to human papillomavirus infection. It appears during childhood with flat wart-like lesions and pityriasis versicolor-like hypo/hyperpigmented macules that can develop carcinomas.

UniProtKB/Swiss-Prot : 73 Epidermodysplasia verruciformis 1: A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV1 inheritance is autosomal recessive.

Wikipedia : 74 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 330)
# Related Disease Score Top Affiliating Genes
1 pityriasis versicolor 32.2 TMC8 TMC6 RHOH IL7 CIB1
2 skin carcinoma 32.0 TP53 TMC8 TMC6 RHOH IL7 CIB1
3 acantholytic acanthoma 31.1 PVR CCDC39
4 coronin-1a deficiency 31.1 DOCK8 CORO1A
5 anogenital venereal wart 31.0 TP53 PVR GP5 CCR6
6 t cell deficiency 30.7 IL7 DOCK8 CORO1A CCR6
7 epidermodysplasia verruciformis, x-linked 12.7
8 epidermodysplasia verruciformis 2 11.2
9 epidermodysplasia verruciformis 3 11.2
10 epidermodysplasia verruciformis 4 11.2
11 epidermodysplasia verruciformis 5 11.2
12 erythrokeratoderma ''en cocardes'' 11.0
13 rare genetic skin disease 10.9
14 squamous cell carcinoma 10.8
15 bowen's disease 10.8
16 keratosis, seborrheic 10.7
17 inverted follicular keratosis 10.7
18 brachial plexus neuritis 10.6 TMC8 TMC6
19 lymphopenia 10.6
20 plantar wart 10.6 TMC8 TMC6 PVR
21 dermatophytosis 10.6
22 47,xyy 10.6
23 deafness, autosomal dominant 30 10.6 TMC2 TMC1
24 focal epithelial hyperplasia 10.6 TMC8 TMC6 GP5
25 y-linked deafness 10.6 TMC2 TMC1
26 deafness, y-linked 1 10.6 TMC8 TMC2 TMC1
27 comedo carcinoma 10.5 TP53 GP5
28 whim syndrome 10.5 TMC8 DOCK8 CCR6
29 anti-basement membrane glomerulonephritis 10.5 CFHR2 CCR6
30 plague 10.5
31 y-linked monogenic disease 10.5 TMC2 TMC1
32 eccrine sweat gland cancer 10.5 TP53 DOCK8
33 penile benign neoplasm 10.5 TP53 GP5
34 systemic lupus erythematosus 10.5
35 autosomal recessive disease 10.5
36 basal cell carcinoma 10.5
37 pustulosis of palm and sole 10.5
38 in situ carcinoma 10.5
39 actinic keratosis 10.5
40 psoriasis 10.5
41 thyroid lymphoma 10.5 TP53 IL7
42 common wart 10.5 TP53 TMC8 TMC6 PVR
43 skin papilloma 10.5 TP53 PVR CCDC39
44 deafness, autosomal recessive 48 10.5 TMC3 TMC2 TMC1
45 deafness, autosomal dominant 36 10.5 TMC3 TMC2 TMC1
46 deafness, autosomal recessive 7 10.5 TMC3 TMC2 TMC1
47 angiokeratoma of fordyce 10.5 TMC8 TMC6
48 penile disease 10.5 TP53 PVR GP5
49 vaginal disease 10.5 TP53 GP5 CCR6
50 rectal disease 10.5 TP53 GP5 CCR6

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:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
2 seborrheic dermatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001051
3 verrucae 58 31 hallmark (90%) Very frequent (99-80%) HP:0200043
4 pustule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200039
5 recurrent skin infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0001581
6 skin plaque 58 31 hallmark (90%) Very frequent (99-80%) HP:0200035
7 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
8 multiple cafe-au-lait spots 58 31 frequent (33%) Frequent (79-30%) HP:0007565
9 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0100585
10 squamous cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002860
11 abnormality of metabolism/homeostasis 31 HP:0001939
12 abnormality of the immune system 58 Very frequent (99-80%)
13 basal cell carcinoma 31 HP:0002671

Symptoms via clinical synopsis from OMIM:

56
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
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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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycolic acid Approved, Investigational 79-14-1 757
2
Ethanol Approved 64-17-5 702
3 Dermatologic Agents
4 Keratolytic Agents
5 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Acquired Epidermodysplasia Verruciformis (EV) Syndrome in HIV-infected Pediatric Patients: Prospective Treatment Trial With Topical Glycolic Acid and HPV Genotype Characterization Completed NCT01289171 Glycolic acid
2 Evaluation of the Effectiveness of an Alcohol Based Hand Gel for the Reduction of Warts on the Hands Completed NCT00973856

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, Susceptibility to, 1 29 TMC6
2 Epidermodysplasia Verruciformis 29
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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:

19
Skin

MalaCards organs/tissues related to Epidermodysplasia Verruciformis 1:

40
Skin, T Cells, Bone Marrow, Eye, Bone, Brain, Kidney
Sources

Publications for Epidermodysplasia Verruciformis 1

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Articles related to Epidermodysplasia Verruciformis 1:

(show top 50) (show all 777)
# Title Authors PMID Year
1
Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. 56 6 61
15042430 2004
2
Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. 6 56 61
12426567 2002
3
Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25. 61 56
10844558 2000
4
A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. 56 61
10084299 1999
5
Characteristics of the lesions and risk of malignant conversion associated with the type of human papillomavirus involved in epidermodysplasia verruciformis. 61 56
218721 1979
6
Twenty-one years of follow-up studies of familial epidermodysplasia verruciformis. 61 56
220107 1979
7
Two siblings with epidermodysplasia verruciformis with large clear cells in the epidermis: electron microscope and immunological findings. 61 56
94210 1979
8
The virus of epidermodysplasia verruciformis: electron microscopic and fluorescent antibody studies. 61 56
808576 1975
9
Epidermodysplasia verruciformis with electron microscopic demonstration of virus. 56 61
5662209 1968
10
On the viral etiology of epidermodysplasia verruciformis. 56 61
5922271 1966
11
[Epidermodysplasia verruciformis: hereditary and manifestation picture]. 61 56
14397618 1955
12
[Not Available]. 56
13480104 1957
13
[Not Available]. 56
18139272 1949
14
Autosomal dominant epidermodysplasia verruciformis lacking a known EVER1 or EVER2 mutation. 61 54
19706093 2009
15
Treatment of a patient with epidermodysplasia verruciformis carrying a novel EVER2 mutation with imiquimod. 61 54
17368633 2007
16
Novel homozygous frameshift mutation of EVER1 gene in an epidermodysplasia verruciformis patient. 61 54
17139267 2007
17
Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis. 54 61
17008061 2006
18
A homozygous nonsense mutation in the EVER2 gene leads to epidermodysplasia verruciformis. 54 61
16045695 2005
19
Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. 61 54
12906855 2003
20
Claudin expression profile in flat wart and cutaneous squamous cell carcinoma in epidermodysplasia verruciformis. 61
32518268 2020
21
Visual Dermatology: Epidermodysplasia Verruciformis. 61
32479123 2020
22
Acquired Epidermodysplasia Verruciformis in the Setting of Renal Transplant. 61
32568838 2020
23
Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis. 61
32435828 2020
24
Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca. 61
32406058 2020
25
Acquired epidermodysplasia verruciformis: a 10-year anniversary update. 61
31545504 2020
26
Beta human papillomaviruses infection and skin carcinogenesis. 61
32232924 2020
27
["Typical" epidermodysplasia verruciformis: Identification of a molecular complex regulating keratinocyte innate immunity]. 61
31952952 2020
28
Novel dermoscopic features of pityriasis versicolor-like macules in epidermodysplasia verruciformis. 61
31643110 2020
29
Dermoscopic and reflectance confocal microscopic features of epidermodysplasia verruciformis. 61
30802999 2019
30
New biomarkers of human papillomavirus infection in epidermodysplasia verruciformis. 61
31075668 2019
31
Diagnosis of epidermodysplasia verruciformis: Two cases highlighting the role of direct HPV L1 gene sequencing. 61
30773702 2019
32
A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis. 61
30503243 2019
33
Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma. 61
30778533 2019
34
Cross-talk of cutaneous beta human papillomaviruses and the immune system: determinants of disease penetrance. 61
30955489 2019
35
Skin Cancer Associated Genodermatoses: A Literature Review. 61
30653245 2019
36
The Protein Tyrosine Phosphatase H1 PTPH1 Supports Proliferation of Keratinocytes and is a Target of the Human Papillomavirus Type 8 E6 Oncogene. 61
30875834 2019
37
Multiple flat-topped scaly violaceous papules. 61
30982308 2019
38
Epidermodysplasia verruciformis in a young adult with activated PI3Kδ syndrome. 61
30740505 2019
39
Progressive Flat Papules on the Extremities: Epidermodysplasia Verruciformis. 61
31904334 2019
40
A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis. 61
30612220 2019
41
Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis. 61
30036492 2019
42
Beta Human Papillomavirus and Associated Diseases. 61
30673666 2019
43
[Low-dose prophylactic oral isotretinoin treatment for 18 years in a patient with epidermodysplasia verruciformis and numerous squamous cell carcinomas]. 61
30250966 2018
44
Metagenomic Discovery of 83 New Human Papillomavirus Types in Patients with Immunodeficiency. 61
30541782 2018
45
A novel approach to the classification of epidermodysplasia verruciformis. 61
30156265 2018
46
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses. 61
30068544 2018
47
Acquired epidermodysplasia verruciformis in setting of tumor necrosis factor-α inhibitor therapy. 61
30246133 2018
48
HPV: CIB1 is for EVER and EVER. 61
30068545 2018
49
Epidemiology and biology of cutaneous human papillomavirus. 61
30133564 2018
50
An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome). 61
30147876 2018
Sources

Variations for Epidermodysplasia Verruciformis 1

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ClinVar genetic disease variations for Epidermodysplasia Verruciformis 1:

6 (show top 50) (show all 226) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMC8 NC_000017.11:g.(?_78137697)_(78137834_?)deldeletion Pathogenic 456001 17:76133778-76133915 17:78137697-78137834
2 TMC6 NM_007267.7(TMC6):c.1325dup (p.Thr444fs)duplication Pathogenic 526234 rs1555655146 17:76117694-76117695 17:78121613-78121614
3 TMC6 NM_007267.7(TMC6):c.748_1082+56deldeletion Pathogenic 582588 rs1567997496 17:76120014-76120748 17:78123933-78124667
4 TMC8 NM_007267.7(TMC6):c.-75+434G>ASNV Pathogenic 653590 17:76127988-76127988 17:78131907-78131907
5 TMC8 NM_152468.5(TMC8):c.1746del (p.Leu583fs)deletion Pathogenic 658615 17:76134734-76134734 17:78138653-78138653
6 TMC6 NM_001127198.5(TMC6):c.967del (p.Leu323fs)deletion Pathogenic 836197 17:76120185-76120185 17:78124104-78124104
7 TMC6 NM_001127198.5(TMC6):c.2022-1G>CSNV Likely pathogenic 852379 17:76113726-76113726 17:78117645-78117645
8 TMC6 NM_007267.7(TMC6):c.280C>T (p.Arg94Ter)SNV risk factor 4748 rs121908327 17:76121957-76121957 17:78125876-78125876
9 TMC6 NM_007267.7(TMC6):c.1726G>T (p.Glu576Ter)SNV risk factor 4749 rs121908328 17:76115463-76115463 17:78119382-78119382
10 TMC6 NM_007267.7(TMC6):c.744C>A (p.Tyr248Ter)SNV risk factor 4750 rs121908329 17:76120752-76120752 17:78124671-78124671
11 TMC6 NM_007267.7(TMC6):c.892-2A>TSNV Likely pathogenic 4751 rs769471844 17:76120262-76120262 17:78124181-78124181
12 TMC6 NM_007267.7(TMC6):c.892-2A>GSNV Likely pathogenic 662928 17:76120262-76120262 17:78124181-78124181
13 TMC6 NM_007267.7(TMC6):c.1811+1G>ASNV Likely pathogenic 580435 rs1567989416 17:76115377-76115377 17:78119296-78119296
14 TMC8 NM_152468.4(TMC8):c.1364G>A (p.Arg455Gln)SNV Conflicting interpretations of pathogenicity 526232 rs151076155 17:76134100-76134100 17:78138019-78138019
15 TMC6 NM_007267.7(TMC6):c.712G>A (p.Gly238Arg)SNV Uncertain significance 526239 rs185225783 17:76120784-76120784 17:78124703-78124703
16 TMC6 NM_007267.7(TMC6):c.554C>T (p.Pro185Leu)SNV Uncertain significance 526240 rs373631928 17:76121049-76121049 17:78124968-78124968
17 TMC8 NM_152468.4(TMC8):c.875C>T (p.Thr292Met)SNV Uncertain significance 526243 rs140623039 17:76130533-76130533 17:78134452-78134452
18 TMC6 NM_007267.7(TMC6):c.1200G>A (p.Gln400=)SNV Uncertain significance 456004 rs770350851 17:76118713-76118713 17:78122632-78122632
19 TMC6 NM_007267.7(TMC6):c.116A>G (p.Gln39Arg)SNV Uncertain significance 456003 rs974988254 17:76122670-76122670 17:78126589-78126589
20 TMC6 NM_007267.7(TMC6):c.890C>T (p.Ala297Val)SNV Uncertain significance 456019 rs199717203 17:76120606-76120606 17:78124525-78124525
21 TMC6 NM_007267.7(TMC6):c.1961C>T (p.Thr654Met)SNV Uncertain significance 456011 rs549556408 17:76113943-76113943 17:78117862-78117862
22 TMC6 NM_007267.7(TMC6):c.2011G>A (p.Ala671Thr)SNV Uncertain significance 456012 rs1415810329 17:76113893-76113893 17:78117812-78117812
23 TMC6 NM_007267.7(TMC6):c.1292C>T (p.Ala431Val)SNV Uncertain significance 572298 rs200760468 17:76117728-76117728 17:78121647-78121647
24 TMC8 NM_152468.4(TMC8):c.1582T>C (p.Ser528Pro)SNV Uncertain significance 526238 rs1383156201 17:76134478-76134478 17:78138397-78138397
25 TMC6 NM_007267.7(TMC6):c.1976_1984dup (p.Pro659_Phe661dup)duplication Uncertain significance 568139 rs1567986944 17:76113919-76113920 17:78117838-78117839
26 TMC8 NM_007267.7(TMC6):c.-75+743GCA[4]short repeat Uncertain significance 583090 rs1259899112 17:76127670-76127671 17:78131589-78131590
27 TMC8 NM_152468.4(TMC8):c.605G>A (p.Arg202His)SNV Uncertain significance 578709 rs374504400 17:76129560-76129560 17:78133479-78133479
28 TMC8 NM_152468.4(TMC8):c.668+5_668+6delinsACindel Uncertain significance 579012 rs1568016780 17:76129628-76129629 17:78133547-78133548
29 TMC8 NM_152468.4(TMC8):c.1128-6C>TSNV Uncertain significance 572461 rs1002758195 17:76133310-76133310 17:78137229-78137229
30 TMC8 NM_152468.4(TMC8):c.1886G>T (p.Arg629Leu)SNV Uncertain significance 581875 rs369861947 17:76135305-76135305 17:78139224-78139224
31 TMC6 NM_007267.7(TMC6):c.1459C>T (p.Pro487Ser)SNV Uncertain significance 576487 rs200099536 17:76117170-76117170 17:78121089-78121089
32 TMC6 NM_007267.7(TMC6):c.413C>T (p.Thr138Met)SNV Uncertain significance 565842 rs553985699 17:76121824-76121824 17:78125743-78125743
33 TMC6 NM_007267.7(TMC6):c.333_335del (p.Arg111del)deletion Uncertain significance 571066 rs1568002050 17:76121902-76121904 17:78125821-78125823
34 TMC8 NM_007267.7(TMC6):c.-75+424C>TSNV Uncertain significance 575803 rs757695775 17:76127998-76127998 17:78131917-78131917
35 TMC8 NM_152468.4(TMC8):c.531+5G>ASNV Uncertain significance 569054 rs1568015382 17:76128956-76128956 17:78132875-78132875
36 TMC6 NM_007267.7(TMC6):c.656C>T (p.Ala219Val)SNV Uncertain significance 574261 rs763931900 17:76120840-76120840 17:78124759-78124759
37 TMC6 NM_007267.7(TMC6):c.440G>A (p.Ser147Asn)SNV Uncertain significance 572907 rs370392549 17:76121335-76121335 17:78125254-78125254
38 TMC8 NM_152468.4(TMC8):c.1513C>T (p.Leu505Phe)SNV Uncertain significance 526241 rs147922298 17:76134249-76134249 17:78138168-78138168
39 TMC6 NM_007267.7(TMC6):c.2033C>T (p.Ser678Leu)SNV Uncertain significance 526233 rs749657465 17:76113714-76113714 17:78117633-78117633
40 TMC8 NM_007267.7(TMC6):c.-75+718G>ASNV Uncertain significance 526242 rs748499539 17:76127704-76127704 17:78131623-78131623
41 TMC8 NM_152468.4(TMC8):c.1237G>A (p.Val413Ile)SNV Uncertain significance 526244 rs545052827 17:76133425-76133425 17:78137344-78137344
42 TMC8 NM_152468.4(TMC8):c.822G>C (p.Glu274Asp)SNV Uncertain significance 526237 rs773623676 17:76130480-76130480 17:78134399-78134399
43 TMC6 NM_007267.7(TMC6):c.1652G>A (p.Arg551Gln)SNV Uncertain significance 526245 rs537200296 17:76116797-76116797 17:78120716-78120716
44 TMC8 NM_152468.4(TMC8):c.1665-8C>GSNV Uncertain significance 656770 17:76134647-76134647 17:78138566-78138566
45 TMC8 NM_152468.4(TMC8):c.2161C>G (p.Pro721Ala)SNV Uncertain significance 640919 17:76137173-76137173 17:78141092-78141092
46 TMC8 NM_007267.7(TMC6):c.-75+341G>ASNV Uncertain significance 640900 17:76128081-76128081 17:78132000-78132000
47 TMC8 NM_152468.4(TMC8):c.390C>G (p.Phe130Leu)SNV Uncertain significance 651707 17:76128531-76128531 17:78132450-78132450
48 TMC8 NM_152468.4(TMC8):c.533C>A (p.Ala178Asp)SNV Uncertain significance 642758 17:76129488-76129488 17:78133407-78133407
49 TMC8 NM_152468.4(TMC8):c.693G>C (p.Lys231Asn)SNV Uncertain significance 657204 17:76129958-76129958 17:78133877-78133877
50 TMC8 NM_152468.4(TMC8):c.719C>T (p.Ala240Val)SNV Uncertain significance 663103 17:76129984-76129984 17:78133903-78133903

Cosmic variations for Epidermodysplasia Verruciformis 1:

9 (show top 50) (show all 1905)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87910628 TP53 skin,face,carcinoma,squamous cell carcinoma c.772G>A p.E258K 17:7674191-7674191 20
2 COSM87910495 TP53 skin,face,carcinoma,squamous cell carcinoma c.832C>T p.P278S 17:7673788-7673788 20
3 COSM87899076 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 20
4 COSM87899887 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 20
5 COSM87905569 TP53 skin,face,carcinoma,squamous cell carcinoma c.740A>C p.N247T 17:7674223-7674223 20
6 COSM87906137 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 20
7 COSM87899145 TP53 skin,face,carcinoma,squamous cell carcinoma c.763A>T p.I255F 17:7674200-7674200 20
8 COSM87915681 TP53 skin,hand,carcinoma,squamous cell carcinoma c.310C>T p.Q104* 17:7676059-7676059 20
9 COSM87899377 TP53 skin,face,carcinoma,squamous cell carcinoma c.375+1G>A p.? 17:7675993-7675993 20
10 COSM88075392 TP53 skin,hand,carcinoma,squamous cell carcinoma c.950A>G p.Q317R 17:7673578-7673578 20
11 COSM87897711 TP53 skin,hand,carcinoma,squamous cell carcinoma c.818G>A p.R273H 17:7673802-7673802 20
12 COSM87897627 TP53 skin,face,carcinoma,squamous cell carcinoma c.574C>T p.Q192* 17:7674957-7674957 20
13 COSM87917387 TP53 skin,face,carcinoma,squamous cell carcinoma c.746G>C p.R249T 17:7674217-7674217 20
14 COSM87955907 TP53 skin,hand,carcinoma,squamous cell carcinoma c.845G>C p.R282P 17:7673775-7673775 20
15 COSM87970671 TP53 skin,face,carcinoma,squamous cell carcinoma c.766A>C p.T256P 17:7674197-7674197 20
16 COSM87906379 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 20
17 COSM87898836 TP53 skin,hand,carcinoma,squamous cell carcinoma c.560-1G>A p.? 17:7674972-7674972 20
18 COSM87991360 TP53 skin,face,carcinoma,squamous cell carcinoma c.714T>A p.C238* 17:7674249-7674249 20
19 COSM88003756 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>C p.A189P 17:7674966-7674966 20
20 COSM88016543 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 20
21 COSM87961289 TP53 skin,face,carcinoma,squamous cell carcinoma c.706T>C p.Y236H 17:7674257-7674257 20
22 COSM88117113 TP53 skin,hand,carcinoma,squamous cell carcinoma c.590T>C p.V197A 17:7674941-7674941 20
23 COSM87898351 TP53 skin,neck,carcinoma,squamous cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 20
24 COSM87898463 TP53 skin,face,carcinoma,squamous cell carcinoma c.733G>T p.G245C 17:7674230-7674230 20
25 COSM135128838 TGFBR1 skin,neck,carcinoma,squamous cell carcinoma c.1259C>T p.S420F 9:99146601-99146601 20
26 COSM84678061 SMO skin,neck,carcinoma,squamous cell carcinoma c.1103C>T p.P368L 7:129206332-129206332 20
27 COSM86828717 RARA skin,neck,carcinoma,squamous cell carcinoma c.1384C>T p.P462S 17:40356221-40356221 20
28 COSM94496058 RAD52 skin,neck,carcinoma,squamous cell carcinoma c.439G>A p.V147M 12:927173-927173 20
29 COSM97061657 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1619G>A p.G540E 20:42352227-42352227 20
30 COSM97061670 PTPRT skin,neck,carcinoma,squamous cell carcinoma c.1607C>T p.S536L 20:42352239-42352239 20
31 COSM101904169 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1261C>T p.P421S 9:8518130-8518130 20
32 COSM101917565 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.1736G>A p.S579N 9:8504347-8504347 20
33 COSM101909541 PTPRD skin,neck,carcinoma,squamous cell carcinoma c.5048C>T p.S1683F 9:8341168-8341168 20
34 COSM90829299 PTCH1 skin,face,carcinoma,squamous cell carcinoma c.3724G>A p.E1242K 9:95449149-95449149 20
35 COSM135344063 PLCG2 skin,neck,carcinoma,squamous cell carcinoma c.115G>T p.E39* 16:81786104-81786104 20
36 COSM96446251 PIK3CG skin,neck,carcinoma,squamous cell carcinoma c.310G>A p.G104R 7:106867871-106867871 20
37 COSM96446257 PIK3CG skin,neck,carcinoma,squamous cell carcinoma c.3227G>A p.R1076K 7:106905305-106905305 20
38 COSM97108079 NRAS skin,face,carcinoma,squamous cell carcinoma c.183A>T p.Q61H 1:114713907-114713907 20
39 COSM97110803 NRAS skin,face,carcinoma,squamous cell carcinoma c.443C>T p.T148I 1:114709576-114709576 20
40 COSM97107717 NRAS skin,face,carcinoma,squamous cell carcinoma c.38G>T p.G13V 1:114716123-114716123 20
41 COSM97110376 NRAS skin,hand,carcinoma,squamous cell carcinoma c.395A>G p.E132G 1:114709624-114709624 20
42 COSM88407030 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5836A>G p.T1946A 1:119918499-119918499 20
43 COSM88396973 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5449G>A p.D1817N 1:119920259-119920259 20
44 COSM88392222 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.6662T>C p.V2221A 1:119916060-119916060 20
45 COSM88392238 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1340G>A p.G447D 1:119967546-119967546 20
46 COSM88408801 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.1800G>A p.M600I 1:119963689-119963689 20
47 COSM88388711 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.337C>T p.R113* 1:120005407-120005407 20
48 COSM88409975 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.5524T>C p.S1842P 1:119919569-119919569 20
49 COSM88392232 NOTCH2 skin,hand,carcinoma,squamous cell carcinoma c.3293G>A p.C1098Y 1:119937901-119937901 20
50 COSM88399925 NOTCH2 skin,face,carcinoma,squamous cell carcinoma c.7097C>T p.A2366V 1:119915625-119915625 20
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Expression for Epidermodysplasia Verruciformis 1

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Search GEO for disease gene expression data for Epidermodysplasia Verruciformis 1.
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Pathways 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 integral component of plasma membrane GO:0005887 9.5 TMC8 TMC6 TMC3 TMC2 TMC1 GP5
2 stereocilium tip GO:0032426 9.16 TMC2 TMC1
3 nuclear membrane GO:0031965 8.92 TP53 TMC8 TMC6 SLC30A1

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.43 TMC8 TMC6 TMC3 TMC2 TMC1 SLC30A1
2 positive regulation of T cell differentiation GO:0045582 9.4 RHOH IL7
3 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.37 TMC2 TMC1
4 immunological synapse formation GO:0001771 9.32 DOCK8 CORO1A
5 regulation of calcium ion transmembrane transport GO:1903169 9.26 TMC2 TMC1
6 T cell lineage commitment GO:0002360 9.16 TP53 IL7
7 vestibular reflex GO:0060005 8.62 TMC2 TMC1

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.35 TMC8 TMC6 TMC3 TMC2 TMC1
2 mechanosensitive ion channel activity GO:0008381 9.02 TMC8 TMC6 TMC3 TMC2 TMC1
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Sources for Epidermodysplasia Verruciformis 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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