EV2
MCID: EPD084
MIFTS: 22

Epidermodysplasia Verruciformis 2 (EV2)

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

Aliases & Classifications for Epidermodysplasia Verruciformis 2

MalaCards integrated aliases for Epidermodysplasia Verruciformis 2:

Name: Epidermodysplasia Verruciformis 2 57 72
Epidermodysplasia Verruciformis, Susceptibility to, 2 57 29 6
Ev2 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of skin lesions in late childhood (7-10 years)
onset of skin cancer in adulthood
skin cancers associated with hpv3, hpv8, hpv20, hpv38


HPO:

31
epidermodysplasia verruciformis 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618231
OMIM Phenotypic Series 57 PS226400
MeSH 44 D004819
SNOMED-CT via HPO 68 254651007 258211005

Summaries for Epidermodysplasia Verruciformis 2

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). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400). (618231) (Updated 05-Apr-2021)

MalaCards based summary : Epidermodysplasia Verruciformis 2, also known as epidermodysplasia verruciformis, susceptibility to, 2, is related to epidermodysplasia verruciformis 1 and squamous cell papilloma. An important gene associated with Epidermodysplasia Verruciformis 2 is TMC8 (Transmembrane Channel Like 8). Affiliated tissues include skin, and related phenotypes are squamous cell carcinoma of the skin and verruca plana

UniProtKB/Swiss-Prot : 72 Epidermodysplasia verruciformis 2: 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. EV2 inheritance is autosomal recessive.

Related Diseases for Epidermodysplasia Verruciformis 2

Diseases in the Epidermodysplasia Verruciformis 1 family:

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

Diseases related to Epidermodysplasia Verruciformis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epidermodysplasia verruciformis 1 10.1
2 squamous cell papilloma 10.1
3 papilloma 10.1

Symptoms & Phenotypes for Epidermodysplasia Verruciformis 2

Human phenotypes related to Epidermodysplasia Verruciformis 2:

31
# Description HPO Frequency HPO Source Accession
1 squamous cell carcinoma of the skin 31 very rare (1%) HP:0006739
2 verruca plana 31 very rare (1%) HP:0550004
3 persistent human papillomavirus infection 31 HP:0020114

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
basal cell carcinoma
squamous cell carcinoma in situ (bowen disease)

Skin Nails Hair Skin Histology:
enlarged keratinocytes in granular or spinous layer
distinctive blue-gray swollen cytoplasm of keratinocytes

Skin Nails Hair Skin:
disseminated flat, wart-like lesions (sun-exposed areas)
pityriasis versicolor-like lesions (trunk)

Immunology:
susceptibility to human papillomavirus (hpv)

Clinical features from OMIM®:

618231 (Updated 05-Apr-2021)

Drugs & Therapeutics for Epidermodysplasia Verruciformis 2

Search Clinical Trials , NIH Clinical Center for Epidermodysplasia Verruciformis 2

Genetic Tests for Epidermodysplasia Verruciformis 2

Genetic tests related to Epidermodysplasia Verruciformis 2:

# Genetic test Affiliating Genes
1 Epidermodysplasia Verruciformis, Susceptibility to, 2 29 TMC8

Anatomical Context for Epidermodysplasia Verruciformis 2

MalaCards organs/tissues related to Epidermodysplasia Verruciformis 2:

40
Skin

Publications for Epidermodysplasia Verruciformis 2

Articles related to Epidermodysplasia Verruciformis 2:

# Title Authors PMID Year
1
Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease. 57 6
28646613 2017
2
Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. 6 57
12426567 2002
3
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. 6 57
10084299 1999
4
Evidence for a nonallelic heterogeneity of epidermodysplasia verruciformis with two susceptibility loci mapped to chromosome regions 2p21-p24 and 17q25. 57
10844558 2000
5
[Epidermodysplasia verruciformis (2 cases). Immunological study (author's transl)]. 61
6254427 1980
6
UV-induced DNA repair synthesis in patients with epidermodysplasia verruciformis. 61
6244993 1980

Variations for Epidermodysplasia Verruciformis 2

ClinVar genetic disease variations for Epidermodysplasia Verruciformis 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMC8 TMC8, 1-BP DEL, 754T Deletion risk factor 4746 GRCh37:
GRCh38:
2 TMC8 NM_152468.4(TMC8):c.1084G>T (p.Glu362Ter) SNV risk factor 4747 rs121908330 GRCh37: 17:76131047-76131047
GRCh38: 17:78134966-78134966
3 TMC8 NM_152468.4(TMC8):c.1127+1G>C SNV risk factor 599259 rs1567799639 GRCh37: 17:76131091-76131091
GRCh38: 17:78135010-78135010

Expression for Epidermodysplasia Verruciformis 2

Search GEO for disease gene expression data for Epidermodysplasia Verruciformis 2.

Pathways for Epidermodysplasia Verruciformis 2

GO Terms for Epidermodysplasia Verruciformis 2

Sources for Epidermodysplasia Verruciformis 2

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