EV3
MCID: EPD085
MIFTS: 25

Epidermodysplasia Verruciformis 3 (EV3)

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

Aliases & Classifications for Epidermodysplasia Verruciformis 3

MalaCards integrated aliases for Epidermodysplasia Verruciformis 3:

Name: Epidermodysplasia Verruciformis 3 58 76
Epidermodysplasia Verruciformis, Susceptibility to, 3 58 6
Ev3 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of skin lesions in childhood or early adulthood
skin cancers develop in adulthood


Classifications:



External Ids:

OMIM 58 618267
MeSH 45 D004819
MedGen 43 CN257949

Summaries for Epidermodysplasia Verruciformis 3

OMIM : 58 Epidermodysplasia verruciformis-3 is characterized by onset in childhood or early adulthood of persistent disseminated flat warts and pityriasis versicolor-like lesions of the skin that are induced by cutaneous human papillomaviruses (HPVs) of the beta genus. Some patients develop nonmelanoma skin cancer, particularly on areas of the body exposed to the sun. Patients are otherwise healthy and normally resistant to other microorganisms, including other viruses and skintropic pathogens, and even all other cutaneous and mucosal HPVs (de Jong et al., 2018). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400). (618267)

MalaCards based summary : Epidermodysplasia Verruciformis 3, also known as epidermodysplasia verruciformis, susceptibility to, 3, is related to epidermodysplasia verruciformis 1 and carotid stenosis. An important gene associated with Epidermodysplasia Verruciformis 3 is CIB1 (Calcium And Integrin Binding 1). Affiliated tissues include skin and testes, and related phenotypes are palmar pits and squamous cell carcinoma

UniProtKB/Swiss-Prot : 76 Epidermodysplasia verruciformis 3: 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. EV3 inheritance is autosomal recessive.

Related Diseases for Epidermodysplasia Verruciformis 3

Diseases in the Epidermodysplasia Verruciformis 1 family:

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

Diseases related to Epidermodysplasia Verruciformis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epidermodysplasia verruciformis 1 10.2
2 carotid stenosis 10.1

Symptoms & Phenotypes for Epidermodysplasia Verruciformis 3

Human phenotypes related to Epidermodysplasia Verruciformis 3:

33
# Description HPO Frequency HPO Source Accession
1 palmar pits 33 very rare (1%) HP:0010610
2 squamous cell carcinoma 33 HP:0002860
3 epidermal acanthosis 33 HP:0025092
4 basal cell carcinoma 33 HP:0002671

Symptoms via clinical synopsis from OMIM:

58
Neoplasia:
basal cell carcinoma
squamous cell carcinoma (mostly on sun-exposed areas)

Skin Nails Hair Skin:
actinic keratoses
recurrent polymorphic skin lesions
generalized flat warts
generalized hyperpigmented thin plaques
verrucous surface on some lesions
more
Skin Nails Hair Skin Histology:
acanthosis
minimal hyperkeratosis
coarse keratohyaline granules
perinuclear halos
blue-gray pallor
more

Clinical features from OMIM:

618267

Drugs & Therapeutics for Epidermodysplasia Verruciformis 3

Search Clinical Trials , NIH Clinical Center for Epidermodysplasia Verruciformis 3

Genetic Tests for Epidermodysplasia Verruciformis 3

Anatomical Context for Epidermodysplasia Verruciformis 3

MalaCards organs/tissues related to Epidermodysplasia Verruciformis 3:

42
Skin, Testes

Publications for Epidermodysplasia Verruciformis 3

Articles related to Epidermodysplasia Verruciformis 3:

(show all 16)
# Title Authors Year
1
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses. ( 30068544 )
2018
2
Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease. ( 28646613 )
2017
3
The genome of the Lactobacillus sanfranciscensis temperate phage EV3. ( 24308641 )
2013
4
Homozygosity for the c.917A→T (p.N306l) polymorphism in the EVER2/TMC8 gene of two sisters with epidermodysplasia verruciformis Lewandowsky-Lutz originally described by Wilhelm Lutz. ( 21196704 )
2011
5
Results of the Protégé EverFlex 200-mm-long nitinol stent (ev3) in TASC C and D femoropopliteal lesions. ( 21636239 )
2011
6
Protected carotid stenting in high-risk patients: results of the SpideRX arm of the carotid revascularization with ev3 arterial technology evolution trial. ( 20624206 )
2010
7
[Scattered papules in three Togolese children from a consanguineous marrige: epidermodysplasia verruciformis]. ( 19702156 )
2009
8
Chromium tolerance and reduction potential of a Bacillus sp.ev3 isolated from metal contaminated wastewater. ( 18498008 )
2008
9
European carotid PROCAR Trial: prospective multicenter trial to evaluate the safety and performance of the ev3 Protégé stent in the treatment of carotid artery stenosis--1- and 6-month follow-up. ( 16724961 )
2006
10
Safety and efficacy of a new filter-based protection system for aorto-coronary bypass graft interventions: the ev3 Spider device. ( 16003018 )
2005
11
Carotid stenting with a new system for distal embolic protection and stenting in high-risk patients: the carotid revascularization with ev3 arterial technology evolution (CREATE) feasibility trial. ( 15343559 )
2004
12
A rapid PCR-based test for the endogenous viral element ev3 of chickens. ( 7793688 )
1995
13
Characterization of the endogenous retroviral envelope glycoproteins found in the sera of ev3 and ev6 chickens. ( 4031827 )
1985
14
[Epidermodysplasia verruciformis. A case report including ultrastructural, virological and photobiological investigations (author's transl)]. ( 228581 )
1979
15
Epidermodysplasia verruciformis. 3. Ultraviolet micro-irradiation of cells in culture. ( 4840892 )
1974
16
[Not Available]. ( 20982046 )
1946

Variations for Epidermodysplasia Verruciformis 3

ClinVar genetic disease variations for Epidermodysplasia Verruciformis 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CIB1 NM_006384.3(CIB1): c.248_249del (p.Lys83Argfs) deletion risk factor GRCh38 Chromosome 15, 90231454: 90231455
2 CIB1 NM_006384.3(CIB1): c.248_249del (p.Lys83Argfs) deletion risk factor GRCh37 Chromosome 15, 90774686: 90774687
3 CIB1 NM_006384.3(CIB1): c.465+1dup duplication risk factor GRCh37 Chromosome 15, 90774326: 90774326
4 CIB1 NM_006384.3(CIB1): c.465+1dup duplication risk factor GRCh38 Chromosome 15, 90231094: 90231094
5 CIB1 NM_006384.3(CIB1): c.548_549dup (p.Ala184Leufs) duplication risk factor GRCh37 Chromosome 15, 90774171: 90774172
6 CIB1 NM_006384.3(CIB1): c.548_549dup (p.Ala184Leufs) duplication risk factor GRCh38 Chromosome 15, 90230939: 90230940
7 CIB1 NM_006384.3(CIB1): c.214C> T (p.Arg72Ter) single nucleotide variant risk factor GRCh37 Chromosome 15, 90774721: 90774721
8 CIB1 NM_006384.3(CIB1): c.214C> T (p.Arg72Ter) single nucleotide variant risk factor GRCh38 Chromosome 15, 90231489: 90231489
9 CIB1 NM_001277764.1(CIB1): c.52-2A> G single nucleotide variant risk factor GRCh38 Chromosome 15, 90233705: 90233705
10 CIB1 NM_001277764.1(CIB1): c.52-2A> G single nucleotide variant risk factor GRCh37 Chromosome 15, 90776937: 90776937

Expression for Epidermodysplasia Verruciformis 3

Search GEO for disease gene expression data for Epidermodysplasia Verruciformis 3.

Pathways for Epidermodysplasia Verruciformis 3

GO Terms for Epidermodysplasia Verruciformis 3

Sources for Epidermodysplasia Verruciformis 3

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75 UMLS via Orphanet
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