EV3
MCID: EPD085
MIFTS: 24

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 57 72
Epidermodysplasia Verruciformis, Susceptibility to, 3 57 29 6
Ev3 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
epidermodysplasia verruciformis 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618267
OMIM Phenotypic Series 57 PS226400
MeSH 44 D004819

Summaries for Epidermodysplasia Verruciformis 3

OMIM® : 57 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) (Updated 20-May-2021)

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

UniProtKB/Swiss-Prot : 72 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 carotid stenosis 10.2
2 epidermodysplasia verruciformis 1 10.1
3 limb ischemia 9.9
4 aphasia 9.9

Symptoms & Phenotypes for Epidermodysplasia Verruciformis 3

Human phenotypes related to Epidermodysplasia Verruciformis 3:

31
# Description HPO Frequency HPO Source Accession
1 palmar pits 31 very rare (1%) HP:0010610
2 basal cell carcinoma 31 HP:0002671
3 squamous cell carcinoma 31 HP:0002860
4 epidermal acanthosis 31 HP:0025092

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Epidermodysplasia Verruciformis 3

Search Clinical Trials , NIH Clinical Center for Epidermodysplasia Verruciformis 3

Genetic Tests for Epidermodysplasia Verruciformis 3

Genetic tests related to Epidermodysplasia Verruciformis 3:

# Genetic test Affiliating Genes
1 Epidermodysplasia Verruciformis, Susceptibility to, 3 29 CIB1

Anatomical Context for Epidermodysplasia Verruciformis 3

MalaCards organs/tissues related to Epidermodysplasia Verruciformis 3:

40
Skin

Publications for Epidermodysplasia Verruciformis 3

Articles related to Epidermodysplasia Verruciformis 3:

# Title Authors PMID Year
1
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses. 57 6
30068544 2018
2
Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease. 57 6
28646613 2017
3
[Epidermodysplasia verruciformis. A case report including ultrastructural, virological and photobiological investigations (author's transl)]. 57 6
228581 1979
4
About verruciform epidermodysplasia. 57 6
20982046 1946
5
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. 6
21196704 2011
6
[Scattered papules in three Togolese children from a consanguineous marrige: epidermodysplasia verruciformis]. 6
19702156 2009
7
Epidermodysplasia verruciformis. 3. Ultraviolet micro-irradiation of cells in culture. 61
4840892 1974

Variations for Epidermodysplasia Verruciformis 3

ClinVar genetic disease variations for Epidermodysplasia Verruciformis 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CIB1 NM_006384.4(CIB1):c.248_249del (p.Lys83fs) Deletion risk factor 599254 rs1323557941 GRCh37: 15:90774686-90774687
GRCh38: 15:90231454-90231455
2 CIB1 NM_006384.4(CIB1):c.465+1dup Duplication risk factor 599255 rs1567068388 GRCh37: 15:90774325-90774326
GRCh38: 15:90231093-90231094
3 CIB1 NM_006384.4(CIB1):c.548_549dup (p.Ala184fs) Duplication risk factor 599256 rs1351703532 GRCh37: 15:90774170-90774171
GRCh38: 15:90230938-90230939
4 CIB1 NM_006384.4(CIB1):c.214C>T (p.Arg72Ter) SNV risk factor 599257 rs143773090 GRCh37: 15:90774721-90774721
GRCh38: 15:90231489-90231489
5 CIB1 NM_006384.4(CIB1):c.52-2A>G SNV risk factor 599258 rs1567069906 GRCh37: 15:90776937-90776937
GRCh38: 15:90233705-90233705

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

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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