EV2
MCID: EPD084
MIFTS: 15

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 58 76
Epidermodysplasia Verruciformis, Susceptibility to, 2 58 6
Ev2 58 76

Classifications:



External Ids:

OMIM 58 618231
MeSH 45 D004819
MedGen 43 CN257497

Summaries for Epidermodysplasia Verruciformis 2

OMIM : 58 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)

MalaCards based summary : Epidermodysplasia Verruciformis 2, is also known as epidermodysplasia verruciformis, susceptibility to, 2. An important gene associated with Epidermodysplasia Verruciformis 2 is TMC8 (Transmembrane Channel Like 8). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 76 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

Symptoms & Phenotypes for Epidermodysplasia Verruciformis 2

Clinical features from OMIM:

618231

Drugs & Therapeutics for Epidermodysplasia Verruciformis 2

Search Clinical Trials , NIH Clinical Center for Epidermodysplasia Verruciformis 2

Genetic Tests for Epidermodysplasia Verruciformis 2

Anatomical Context for Epidermodysplasia Verruciformis 2

MalaCards organs/tissues related to Epidermodysplasia Verruciformis 2:

42
Skin

Publications for Epidermodysplasia Verruciformis 2

Articles related to Epidermodysplasia Verruciformis 2:

# Title Authors Year
1
Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease. ( 28646613 )
2017
2
Search for electron neutrino appearance at the Delta m2 approximately 1 eV2 scale. ( 17677898 )
2007
3
Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. ( 12426567 )
2002
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. ( 10084299 )
1999
5
Sevirumab. Protovir, MSL 109, EV2 7, SDZ MSL 109. ( 10728470 )
1999

Variations for Epidermodysplasia Verruciformis 2

ClinVar genetic disease variations for Epidermodysplasia Verruciformis 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TMC8 TMC8, 1-BP DEL, 754T deletion risk factor
2 TMC8 NM_152468.4(TMC8): c.1084G> T (p.Glu362Ter) single nucleotide variant risk factor rs121908330 GRCh37 Chromosome 17, 76131047: 76131047
3 TMC8 NM_152468.4(TMC8): c.1084G> T (p.Glu362Ter) single nucleotide variant risk factor rs121908330 GRCh38 Chromosome 17, 78134966: 78134966
4 TMC8 NM_152468.4(TMC8): c.1127+1G> C single nucleotide variant risk factor GRCh37 Chromosome 17, 76131091: 76131091
5 TMC8 NM_152468.4(TMC8): c.1127+1G> C single nucleotide variant risk factor GRCh38 Chromosome 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

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10 dbSNP
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70 SNOMED-CT via HPO
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72 TGDB
73 Tocris
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75 UMLS via Orphanet
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