EV5
MCID: EPD087
MIFTS: 18

Epidermodysplasia Verruciformis 5 (EV5)

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

Aliases & Classifications for Epidermodysplasia Verruciformis 5

MalaCards integrated aliases for Epidermodysplasia Verruciformis 5:

Name: Epidermodysplasia Verruciformis 5 57 72
Epidermodysplasia Verruciformis, Susceptibility to, 5 57 29 6
Ev5 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in young adulthood
three sibs born of consanguineous arab parents have been reported (last curated january 2019)


HPO:

31
epidermodysplasia verruciformis 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618309
OMIM Phenotypic Series 57 PS226400
MeSH 44 D004819

Summaries for Epidermodysplasia Verruciformis 5

UniProtKB/Swiss-Prot : 72 Epidermodysplasia verruciformis 5: 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. EV5 patients shows T-cell lymphopenia, particularly affecting CD4+ T cells. EV5 inheritance is autosomal recessive.

MalaCards based summary : Epidermodysplasia Verruciformis 5, is also known as epidermodysplasia verruciformis, susceptibility to, 5. An important gene associated with Epidermodysplasia Verruciformis 5 is IL7 (Interleukin 7). Affiliated tissues include t cells, and related phenotypes are squamous cell carcinoma of the skin and t lymphocytopenia

OMIM® : 57 Epidermodysplasia verruciformis-5 is an autosomal recessive immunologic disorder characterized by onset of warts and verrucous or plaque-like skin lesions associated with HPV infection. Immunologic workup shows T-cell lymphopenia, particularly affecting CD4+ T cells. There is an increased risk of skin malignancy, and some patients may have other symptoms of immune dysfunction (summary by Horev et al., 2015). For a discussion of genetic heterogeneity of susceptibility to epidermodysplasia verruciformis, see EV1 (226400). (618309) (Updated 20-May-2021)

Related Diseases for Epidermodysplasia Verruciformis 5

Symptoms & Phenotypes for Epidermodysplasia Verruciformis 5

Human phenotypes related to Epidermodysplasia Verruciformis 5:

31
# Description HPO Frequency HPO Source Accession
1 squamous cell carcinoma of the skin 31 very rare (1%) HP:0006739
2 t lymphocytopenia 31 very rare (1%) HP:0005403
3 cryptococcal meningitis 31 very rare (1%) HP:0032160
4 verrucae 31 HP:0200043
5 persistent human papillomavirus infection 31 HP:0020114

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair:
epidermodysplasia verruciformis
hpv-related warts
seborrheic keratosis-like lesions
tinea versicolor-like lesions
verruca vulgaris-like lesions

Neoplasia:
increased risk of squamous cell skin cancer on sun-exposed areas

Immunology:
t-cell lymphopenia
increased susceptibility to hpv infections
decreased serum levels of il7
possibly increased risk for opportunistic infections

Clinical features from OMIM®:

618309 (Updated 20-May-2021)

Drugs & Therapeutics for Epidermodysplasia Verruciformis 5

Search Clinical Trials , NIH Clinical Center for Epidermodysplasia Verruciformis 5

Genetic Tests for Epidermodysplasia Verruciformis 5

Genetic tests related to Epidermodysplasia Verruciformis 5:

# Genetic test Affiliating Genes
1 Epidermodysplasia Verruciformis, Susceptibility to, 5 29 IL7

Anatomical Context for Epidermodysplasia Verruciformis 5

MalaCards organs/tissues related to Epidermodysplasia Verruciformis 5:

40
T Cells

Publications for Epidermodysplasia Verruciformis 5

Articles related to Epidermodysplasia Verruciformis 5:

# Title Authors PMID Year
1
Generalized verrucosis and HPV-3 susceptibility associated with CD4 T-cell lymphopenia caused by inherited human interleukin-7 deficiency. 57 6
25981006 2015

Variations for Epidermodysplasia Verruciformis 5

ClinVar genetic disease variations for Epidermodysplasia Verruciformis 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL7 NM_000880.4(IL7):c.205A>T (p.Arg69Ter) SNV risk factor 694068 rs1486611027 GRCh37: 8:79652260-79652260
GRCh38: 8:78740025-78740025

Expression for Epidermodysplasia Verruciformis 5

Search GEO for disease gene expression data for Epidermodysplasia Verruciformis 5.

Pathways for Epidermodysplasia Verruciformis 5

GO Terms for Epidermodysplasia Verruciformis 5

Sources for Epidermodysplasia Verruciformis 5

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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