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EV1
MCID: EPD083
MIFTS: 57

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 57 73
Epidermodysplasia Verruciformis 57 12 74 20 58 36 29 13 54 6 44 15
Epidermodysplasia Verruciformis, Susceptibility to, 1 57 29 6
Lutz-Lewandowsky Epidermodysplasia Verruciformis 20 58
Lewandowsky-Lutz Syndrome 20 58
Ev1 57 73
Epidermodysplasia Verruciformis; Ev 57
Ev 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 226400
OMIM Phenotypic Series 57 PS226400
KEGG 36 H00842
MeSH 44 D004819
NCIt 50 C126877
SNOMED-CT 67 19138001
MESH via Orphanet 45 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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GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 302DefinitionEpidermodysplasia 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 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 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 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, bone marrow and bone, and related phenotypes are seborrheic dermatitis and papule

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® : 57 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) (Updated 05-Mar-2021)

KEGG : 36 Epidermodysplasia verruciformis (EV) is a rare autosomal recessive genodermatosis, which is characterized by persistent human papillomavirus infection. The clinical features are lifelong eruption of pityriasis versicolor-like macules, flat wart-like papules and development of cutaneous 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 178)
# Related Disease Score Top Affiliating Genes
1 pityriasis versicolor 31.8 TMC8 TMC6 RHOH IL7 CORO1A CIB1
2 skin carcinoma 31.7 TP53 TMC8 TMC6 RHOH IL7 CIB1
3 squamous cell papilloma 30.8 TP53 GP5
4 coronin-1a deficiency 30.7 TMC8 DOCK8 CORO1A
5 anogenital venereal wart 30.5 TP53 TMC8 TMC6 GP5 CCR6
6 tuberculoid leprosy 30.4 CORO1A CCR6
7 epidermodysplasia verruciformis, x-linked 11.4
8 epidermodysplasia verruciformis 2 10.9
9 epidermodysplasia verruciformis 3 10.9
10 epidermodysplasia verruciformis 4 10.9
11 epidermodysplasia verruciformis 5 10.9
12 erythrokeratoderma ''en cocardes'' 10.9
13 rare genetic skin disease 10.7
14 squamous cell carcinoma 10.7
15 keratosis, seborrheic 10.6
16 inverted follicular keratosis 10.6
17 bowen's disease 10.6
18 angiokeratoma of fordyce 10.5 TMC8 TMC6
19 lymphopenia 10.5
20 superficial mycosis 10.4 TMC8 TMC6 RHOH
21 suppurative lymphadenitis 10.4 DOCK8 CCR6
22 focal epithelial hyperplasia 10.4 TMC8 TMC6 GP5
23 common wart 10.4 TP53 TMC8 TMC6
24 plantar wart 10.4 TMC8 TMC6
25 deafness, autosomal dominant 30 10.4 TMC2 TMC1
26 y-linked deafness 10.4 TMC2 TMC1
27 deafness, y-linked 1 10.4 TMC8 TMC2 TMC1
28 comedo carcinoma 10.4 TP53 GP5
29 dermatophytosis 10.4
30 y-linked monogenic disease 10.4 TMC2 TMC1
31 penile benign neoplasm 10.4 TP53 GP5
32 thyroid lymphoma 10.4 TP53 IL7
33 anti-basement membrane glomerulonephritis 10.4 CFHR2 CCR6
34 whim syndrome 10.4 TMC8 TMC6 DOCK8 CCR6
35 deafness, autosomal recessive 48 10.4 TMC3 TMC2 TMC1
36 monoclonal gammopathy of uncertain significance 10.4 TP53 CFHR2 CCR6
37 deafness, autosomal dominant 36 10.4 TMC3 TMC2 TMC1
38 chronic cervicitis 10.4 TP53 GP5
39 penile disease 10.4 TP53 GP5 CCR6
40 vaginal disease 10.4 TP53 GP5 CCR6
41 herpangina 10.4 TP53 GP5 CCR6
42 anus disease 10.4 TP53 GP5 CCR6
43 systemic lupus erythematosus 10.4
44 autosomal recessive disease 10.4
45 lymphoma 10.4
46 human papillomavirus infectious disease 10.4
47 basal cell carcinoma 10.4
48 merkel cell carcinoma 10.4
49 pustulosis of palm and sole 10.4
50 in situ carcinoma 10.4

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 seborrheic dermatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001051
2 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
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 multiple cafe-au-lait spots 58 31 frequent (33%) Frequent (79-30%) HP:0007565
8 hypopigmented skin patches 58 31 frequent (33%) Frequent (79-30%) HP:0001053
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 the immune system 58 Very frequent (99-80%)
12 abnormality of metabolism/homeostasis 31 HP:0001939
13 basal cell carcinoma 31 HP:0002671

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 Keratolytic Agents
4 Dermatologic 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, Bone Marrow, Bone, Brain, Kidney, Lung, Myeloid
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Publications for Epidermodysplasia Verruciformis 1

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Articles related to Epidermodysplasia Verruciformis 1:

(show top 50) (show all 791)
# Title Authors PMID Year
1
Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. 6 57 61
15042430 2004
2
Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. 6 57 61
12426567 2002
3
Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25. 57 61
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. 61 57
10084299 1999
5
Characteristics of the lesions and risk of malignant conversion associated with the type of human papillomavirus involved in epidermodysplasia verruciformis. 61 57
218721 1979
6
Twenty-one years of follow-up studies of familial epidermodysplasia verruciformis. 61 57
220107 1979
7
Two siblings with epidermodysplasia verruciformis with large clear cells in the epidermis: electron microscope and immunological findings. 61 57
94210 1979
8
The virus of epidermodysplasia verruciformis: electron microscopic and fluorescent antibody studies. 57 61
808576 1975
9
Epidermodysplasia verruciformis with electron microscopic demonstration of virus. 57 61
5662209 1968
10
On the viral etiology of epidermodysplasia verruciformis. 57 61
5922271 1966
11
For Epidermodysplasia verruciformis. 57 61
13480104 1957
12
[Epidermodysplasia verruciformis: hereditary and manifestation picture]. 57 61
14397618 1955
13
On the question of the relationships between epidermodysplasia verruciformis and generalized verrucosis. 57 61
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. 54 61
17139267 2007
17
Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis. 61 54
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. 54 61
12906855 2003
20
Epidermodysplasia Verruciformis After Hematopoietic Stem Cell Transplantation in a Patient With Severe Combined Immunodeficiency Syndrome. 61
33577180 2021
21
One patient, two rare diseases: coexistence of epidermodysplasia verruciformis and Merkel cell carcinoma. 61
33570897 2021
22
The Clinical Implication of Incidental Epidermodysplasia Verruciformis. 61
32649343 2021
23
Acquired Epidermodysplasia Verruciformis in the Setting of Renal Transplant. 61
32568838 2021
24
Acquired epidermodysplasia verruciformis in renal-transplant recipients. 61
33363803 2020
25
Cervical dysplasia in a patient with inherited epidermodysplasia verruciformis-A mere coincidence? 61
33319409 2020
26
Next-Generation Sequencing Identifies a Homozygous Nonsense p.Tyr370* Mutation of the TMC6 Gene in a Mexican Pedigree with Epidermodysplasia Verruciformis. 61
33262542 2020
27
Acquired Human Papilloma Virus Type 6-Associated Epidermodysplasia Verruciformis in a Patient With Systemic Lupus Erythematosus. 61
32675468 2020
28
Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in lymphocytes is regulated by each of the components. 61
32917726 2020
29
Gene expression is stable in a complete CIB1 knockout keratinocyte model. 61
32917957 2020
30
Severe Epidermodysplasia Verruciformis. 61
32861342 2020
31
Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca. 61
32406058 2020
32
Human Papillomavirus (HPV)-Associated Squamous Cell Carcinoma In situ With Positive p16 and Ki-67 Immunohistochemical Stains in a Young Immunocompetent Patient. 61
32923268 2020
33
Beta human papillomaviruses infection and skin carcinogenesis. 61
32232924 2020
34
Epidermodysplasia Verruciformis: A Rare Case Report. 61
32782865 2020
35
[Epidermodysplasia verruciformis]. 61
32974716 2020
36
Visual Dermatology: Epidermodysplasia Verruciformis. 61
32479123 2020
37
Claudin expression profile in flat wart and cutaneous squamous cell carcinoma in epidermodysplasia verruciformis. 61
32518268 2020
38
Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis. 61
32435828 2020
39
Acquired epidermodysplasia verruciformis: a 10-year anniversary update. 61
31545504 2020
40
["Typical" epidermodysplasia verruciformis: Identification of a molecular complex regulating keratinocyte innate immunity]. 61
31952952 2020
41
Novel dermoscopic features of pityriasis versicolor-like macules in epidermodysplasia verruciformis. 61
31643110 2020
42
Epidermodysplasia verruciformis with plane warts over lower abdomen and genitals. 61
33062994 2020
43
Human Papillomaviruses and Skin Cancer. 61
32918220 2020
44
Dermoscopic and reflectance confocal microscopic features of epidermodysplasia verruciformis. 61
30802999 2019
45
New biomarkers of human papillomavirus infection in epidermodysplasia verruciformis. 61
31075668 2019
46
Diagnosis of epidermodysplasia verruciformis: Two cases highlighting the role of direct HPV L1 gene sequencing. 61
30773702 2019
47
A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis. 61
30503243 2019
48
Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma. 61
30778533 2019
49
Cross-talk of cutaneous beta human papillomaviruses and the immune system: determinants of disease penetrance. 61
30955489 2019
50
Skin Cancer Associated Genodermatoses: A Literature Review. 61
30653245 2019
Sources

Variations for Epidermodysplasia Verruciformis 1

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ClinVar genetic disease variations for Epidermodysplasia Verruciformis 1:

6 (show top 50) (show all 301)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMC6 NM_007267.7(TMC6):c.748_1082+56del Deletion Pathogenic 582588 rs1567997496 17:76120014-76120748 17:78123933-78124667
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.-75+434G>A SNV Pathogenic 653590 rs1598895511 17:76127988-76127988 17:78131907-78131907
4 TMC8 NC_000017.11:g.(?_78137697)_(78137834_?)del Deletion Pathogenic 456001 17:76133778-76133915 17:78137697-78137834
5 TMC8 NM_152468.5(TMC8):c.1746del (p.Leu583fs) Deletion Pathogenic 658615 rs1598923748 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 TMC8 NM_152468.5(TMC8):c.1268dup (p.Glu425fs) Duplication Pathogenic 959535 17:76133813-76133814 17:78137732-78137733
8 TMC6 NM_001127198.5(TMC6):c.306C>A (p.Tyr102Ter) SNV Pathogenic 933595 17:76121931-76121931 17:78125850-78125850
9 TMC8 NM_152468.5(TMC8):c.1128-2A>G SNV Likely pathogenic 962520 17:76133314-76133314 17:78137233-78137233
10 TMC6 NM_001127198.5(TMC6):c.2022-1G>C SNV Likely pathogenic 852379 17:76113726-76113726 17:78117645-78117645
11 TMC8 NM_152468.5(TMC8):c.669-2A>C SNV Likely pathogenic 967152 17:76129932-76129932 17:78133851-78133851
12 TMC6 NM_001127198.5(TMC6):c.1383+1G>A SNV Likely pathogenic 963990 17:76117636-76117636 17:78121555-78121555
13 TMC8 NM_152468.5(TMC8):c.449-1G>T SNV Likely pathogenic 935805 17:76128868-76128868 17:78132787-78132787
14 TMC6 NM_007267.7(TMC6):c.1811+1G>A SNV Likely pathogenic 580435 rs1567989416 17:76115377-76115377 17:78119296-78119296
15 TMC6 NM_007267.7(TMC6):c.892-2A>G SNV Likely pathogenic 662928 rs769471844 17:76120262-76120262 17:78124181-78124181
16 TMC6 NM_007267.7(TMC6):c.280C>T (p.Arg94Ter) SNV risk factor 4748 rs121908327 17:76121957-76121957 17:78125876-78125876
17 TMC6 NM_007267.7(TMC6):c.1726G>T (p.Glu576Ter) SNV risk factor 4749 rs121908328 17:76115463-76115463 17:78119382-78119382
18 TMC6 NM_007267.7(TMC6):c.744C>A (p.Tyr248Ter) SNV risk factor 4750 rs121908329 17:76120752-76120752 17:78124671-78124671
19 TMC6 NM_007267.7(TMC6):c.892-2A>T SNV Likely pathogenic 4751 rs769471844 17:76120262-76120262 17:78124181-78124181
20 TMC6 NM_007267.7(TMC6):c.116A>G (p.Gln39Arg) SNV Uncertain significance 456003 rs974988254 17:76122670-76122670 17:78126589-78126589
21 TMC6 NM_007267.7(TMC6):c.2011G>A (p.Ala671Thr) SNV Uncertain significance 456012 rs1415810329 17:76113893-76113893 17:78117812-78117812
22 TMC6 NM_007267.7(TMC6):c.1200G>A (p.Gln400=) SNV Uncertain significance 456004 rs770350851 17:76118713-76118713 17:78122632-78122632
23 TMC6 NM_007267.7(TMC6):c.1961C>T (p.Thr654Met) SNV Uncertain significance 456011 rs549556408 17:76113943-76113943 17:78117862-78117862
24 TMC6 NM_007267.7(TMC6):c.633+8C>T SNV Uncertain significance 626187 rs369450669 17:76120962-76120962 17:78124881-78124881
25 TMC6 NM_007267.7(TMC6):c.-75+600C>A SNV Uncertain significance 626188 rs200226247 17:76127822-76127822 17:78131741-78131741
26 TMC6 NM_007267.7(TMC6):c.1147G>A (p.Val383Ile) SNV Uncertain significance 639661 rs375277020 17:76118766-76118766 17:78122685-78122685
27 TMC8 NM_152468.4(TMC8):c.2161C>G (p.Pro721Ala) SNV Uncertain significance 640919 rs1187732896 17:76137173-76137173 17:78141092-78141092
28 TMC6 NM_007267.7(TMC6):c.706C>T (p.Arg236Cys) SNV Uncertain significance 641248 rs753272370 17:76120790-76120790 17:78124709-78124709
29 TMC6 NM_007267.7(TMC6):c.2280G>C (p.Glu760Asp) SNV Uncertain significance 641694 rs748630526 17:76109703-76109703 17:78113622-78113622
30 TMC8 NM_152468.4(TMC8):c.533C>A (p.Ala178Asp) SNV Uncertain significance 642758 rs138940132 17:76129488-76129488 17:78133407-78133407
31 TMC8 NM_152468.4(TMC8):c.1649G>A (p.Gly550Asp) SNV Uncertain significance 642895 rs1350592733 17:76134545-76134545 17:78138464-78138464
32 TMC6 NM_007267.7(TMC6):c.1441C>A (p.Leu481Ile) SNV Uncertain significance 642896 rs1598851806 17:76117188-76117188 17:78121107-78121107
33 TMC6 NM_007267.7(TMC6):c.2390C>T (p.Ala797Val) SNV Uncertain significance 649225 rs907354650 17:76109257-76109257 17:78113176-78113176
34 TMC6 NM_007267.7(TMC6):c.129G>C (p.Gln43His) SNV Uncertain significance 650006 rs371802601 17:76122657-76122657 17:78126576-78126576
35 TMC8 NM_152468.4(TMC8):c.1206C>G (p.Asp402Glu) SNV Uncertain significance 651801 rs746051835 17:76133394-76133394 17:78137313-78137313
36 TMC8 NM_152468.4(TMC8):c.1065C>G (p.Phe355Leu) SNV Uncertain significance 651874 rs760559122 17:76131028-76131028 17:78134947-78134947
37 TMC6 NM_007267.7(TMC6):c.482G>A (p.Arg161Gln) SNV Uncertain significance 652684 rs763383628 17:76121293-76121293 17:78125212-78125212
38 TMC8 NM_152468.4(TMC8):c.1637C>T (p.Ala546Val) SNV Uncertain significance 654083 rs1290549286 17:76134533-76134533 17:78138452-78138452
39 TMC6 NM_007267.7(TMC6):c.1729A>G (p.Lys577Glu) SNV Uncertain significance 654892 rs1598844172 17:76115460-76115460 17:78119379-78119379
40 TMC8 NM_152468.4(TMC8):c.968A>G (p.Tyr323Cys) SNV Uncertain significance 654987 rs530521432 17:76130626-76130626 17:78134545-78134545
41 TMC8 NM_152468.4(TMC8):c.1237G>T (p.Val413Phe) SNV Uncertain significance 655169 rs545052827 17:76133425-76133425 17:78137344-78137344
42 TMC6 NM_007267.7(TMC6):c.2263G>A (p.Glu755Lys) SNV Uncertain significance 655485 rs1467967272 17:76113364-76113364 17:78117283-78117283
43 TMC6 NM_007267.7(TMC6):c.1972T>G (p.Phe658Val) SNV Uncertain significance 656239 rs1280636115 17:76113932-76113932 17:78117851-78117851
44 TMC8 NM_152468.4(TMC8):c.1665-8C>G SNV Uncertain significance 656770 rs1598923439 17:76134647-76134647 17:78138566-78138566
45 TMC6 NM_007267.7(TMC6):c.2383C>T (p.Pro795Ser) SNV Uncertain significance 659016 rs755596766 17:76109264-76109264 17:78113183-78113183
46 TMC8 NM_152468.4(TMC8):c.1168G>C (p.Val390Leu) SNV Uncertain significance 659175 rs150546646 17:76133356-76133356 17:78137275-78137275
47 TMC6 NM_007267.7(TMC6):c.2108C>T (p.Ala703Val) SNV Uncertain significance 659371 rs774998109 17:76113639-76113639 17:78117558-78117558
48 TMC6 NM_007267.7(TMC6):c.2407del (p.Gln803fs) Deletion Uncertain significance 659827 rs1408101229 17:76109240-76109240 17:78113159-78113159
49 TMC6 NM_007267.7(TMC6):c.1213C>T (p.Arg405Cys) SNV Uncertain significance 660372 rs369868982 17:76118700-76118700 17:78122619-78122619
50 TMC6 NM_007267.7(TMC6):c.739T>C (p.Ser247Pro) SNV Uncertain significance 662147 rs1469859349 17:76120757-76120757 17:78124676-78124676

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 COSM106059757 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 20
2 COSM112354551 TP53 skin,hand,carcinoma,squamous cell carcinoma c.565G>A p.A189T 17:7674966-7674966 20
3 COSM112254631 TP53 skin,face,carcinoma,squamous cell carcinoma c.586C>T p.R196* 17:7674945-7674945 20
4 COSM111759858 TP53 skin,hand,carcinoma,squamous cell carcinoma c.856G>A p.E286K 17:7673764-7673764 20
5 COSM143943797 TP53 skin,neck,carcinoma,squamous cell carcinoma c.266G>A p.R89Q 17:7674220-7674220 20
6 COSM121875437 TP53 skin,face,carcinoma,squamous cell carcinoma c.178C>T p.Q60* 17:7674957-7674957 20
7 COSM143388508 TP53 skin,face,carcinoma,squamous cell carcinoma c.629G>C p.R210T 17:7674217-7674217 20
8 COSM111758868 TP53 skin,face,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 20
9 COSM142560384 TP53 skin,face,carcinoma,squamous cell carcinoma c.616G>T p.G206C 17:7674230-7674230 20
10 COSM145161899 TP53 skin,hand,carcinoma,squamous cell carcinoma c.833A>G p.Q278R 17:7673578-7673578 20
11 COSM144021997 TP53 skin,face,carcinoma,squamous cell carcinoma c.421C>T p.P141S 17:7675158-7675158 20
12 COSM144658487 TP53 skin,face,carcinoma,squamous cell carcinoma c.143C>A p.P48Q 17:7676109-7676109 20
13 COSM142639459 TP53 skin,face,carcinoma,squamous cell carcinoma c.597T>A p.C199* 17:7674249-7674249 20
14 COSM105620390 TP53 skin,face,carcinoma,squamous cell carcinoma c.733G>T p.G245C 17:7674230-7674230 20
15 COSM112254266 TP53 skin,hand,carcinoma,squamous cell carcinoma c.673-1G>A p.? 17:7674291-7674291 20
16 COSM112263720 TP53 skin,face,carcinoma,squamous cell carcinoma c.832C>T p.P278S 17:7673788-7673788 20
17 COSM93239210 TP53 skin,face,carcinoma,squamous cell carcinoma c.706T>C p.Y236H 17:7674257-7674257 20
18 COSM145019215 TP53 skin,hand,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 20
19 COSM105620642 TP53 skin,face,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 20
20 COSM143949062 TP53 skin,face,carcinoma,squamous cell carcinoma c.263A>C p.N88T 17:7674223-7674223 20
21 COSM111775215 TP53 skin,face,carcinoma,squamous cell carcinoma c.746G>C p.R249T 17:7674217-7674217 20
22 COSM144129318 TP53 skin,face,carcinoma,squamous cell carcinoma c.229T>C p.Y77H 17:7674257-7674257 20
23 COSM144088618 TP53 skin,face,carcinoma,squamous cell carcinoma c.160C>T p.R54* 17:7674894-7674894 20
24 COSM87910628 TP53 skin,face,carcinoma,squamous cell carcinoma c.772G>A p.E258K 17:7674191-7674191 20
25 COSM144662686 TP53 skin,face,carcinoma,squamous cell carcinoma c.715C>T p.P239S 17:7673788-7673788 20
26 COSM144650676 TP53 skin,face,carcinoma,squamous cell carcinoma c.457C>T p.Q153* 17:7674957-7674957 20
27 COSM142560553 TP53 skin,face,carcinoma,squamous cell carcinoma c.625C>T p.R209W 17:7674221-7674221 20
28 COSM144309924 TP53 skin,hand,carcinoma,squamous cell carcinoma c.701G>A p.R234H 17:7673802-7673802 20
29 COSM93194159 TP53 skin,face,carcinoma,squamous cell carcinoma c.832C>T p.P278S 17:7673788-7673788 20
30 COSM142560281 TP53 skin,neck,carcinoma,squamous cell carcinoma c.626G>A p.R209Q 17:7674220-7674220 20
31 COSM93183975 TP53 skin,face,carcinoma,squamous cell carcinoma c.742C>T p.R248W 17:7674221-7674221 20
32 COSM93199912 TP53 skin,face,carcinoma,squamous cell carcinoma c.746G>C p.R249T 17:7674217-7674217 20
33 COSM144023384 TP53 skin,face,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7674191-7674191 20
34 COSM144087977 TP53 skin,hand,carcinoma,squamous cell carcinoma c.379G>A p.E127K 17:7673764-7673764 20
35 COSM145020185 TP53 skin,face,carcinoma,squamous cell carcinoma c.520C>T p.R174* 17:7674894-7674894 20
36 COSM105630961 TP53 skin,face,carcinoma,squamous cell carcinoma c.782+393C>T p.? 17:7673788-7673788 20
37 COSM111758130 TP53 skin,face,carcinoma,squamous cell carcinoma c.574C>T p.Q192* 17:7674957-7674957 20
38 COSM122749884 TP53 skin,face,carcinoma,squamous cell carcinoma c.350G>C p.R117T 17:7674217-7674217 20
39 COSM93190386 TP53 skin,hand,carcinoma,squamous cell carcinoma c.260C>A p.P87Q 17:7676109-7676109 20
40 COSM106052835 TP53 skin,face,carcinoma,squamous cell carcinoma c.574C>T p.Q192* 17:7674957-7674957 20
41 COSM144023287 TP53 skin,face,carcinoma,squamous cell carcinoma c.799C>T p.P267S 17:7673788-7673788 20
42 COSM106059965 TP53 skin,hand,carcinoma,squamous cell carcinoma c.647T>A p.V216E 17:7674884-7674884 20
43 COSM105621918 TP53 skin,hand,carcinoma,squamous cell carcinoma c.782+417G>A p.? 17:7673764-7673764 20
44 COSM143946062 TP53 skin,face,carcinoma,squamous cell carcinoma c.160C>T p.R54* 17:7674894-7674894 20
45 COSM121887849 TP53 skin,face,carcinoma,squamous cell carcinoma c.436C>T p.P146S 17:7673788-7673788 20
46 COSM143386984 TP53 skin,hand,carcinoma,squamous cell carcinoma c.193C>T p.Q65* 17:7676059-7676059 20
47 COSM144652672 TP53 skin,face,carcinoma,squamous cell carcinoma c.739G>A p.E247K 17:7673764-7673764 20
48 COSM142843719 TP53 skin,face,carcinoma,squamous cell carcinoma c.454C>T p.P152S 17:7675158-7675158 20
49 COSM122787283 TP53 skin,hand,carcinoma,squamous cell carcinoma c.449G>C p.R150P 17:7673775-7673775 20
50 COSM144213765 TP53 skin,hand,carcinoma,squamous cell carcinoma c.473A>G p.Q158R 17:7673578-7673578 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 membrane GO:0016020 10.03 TP53 TMC8 TMC6 TMC4 TMC3 TMC2
2 integral component of plasma membrane GO:0005887 9.23 TMC8 TMC6 TMC4 TMC3 TMC2 TMC1
3 stereocilium tip GO:0032426 8.96 TMC2 TMC1

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

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.71 TMC8 TMC6 TMC4 TMC3
2 positive regulation of T cell differentiation GO:0045582 9.43 RHOH IL7
3 ion transport GO:0006811 9.43 TMC8 TMC6 TMC3 TMC2 TMC1 SLC30A1
4 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.37 TMC2 TMC1
5 immunological synapse formation GO:0001771 9.32 DOCK8 CORO1A
6 regulation of calcium ion transmembrane transport GO:1903169 9.26 TMC2 TMC1
7 T cell lineage commitment GO:0002360 9.16 TP53 IL7
8 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 mechanosensitive ion channel activity GO:0008381 9.1 TMC8 TMC6 TMC4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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