EV5
MCID: EPD087
MIFTS: 14

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 58
Epidermodysplasia Verruciformis, Susceptibility to, 5 58
Ev5 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618309

Summaries for Epidermodysplasia Verruciformis 5

OMIM : 58 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)

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 skin.

Related Diseases for Epidermodysplasia Verruciformis 5

Symptoms & Phenotypes for Epidermodysplasia Verruciformis 5

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Epidermodysplasia Verruciformis 5

Search Clinical Trials , NIH Clinical Center for Epidermodysplasia Verruciformis 5

Genetic Tests for Epidermodysplasia Verruciformis 5

Anatomical Context for Epidermodysplasia Verruciformis 5

MalaCards organs/tissues related to Epidermodysplasia Verruciformis 5:

42
T Cells, Skin

Publications for Epidermodysplasia Verruciformis 5

Variations for Epidermodysplasia Verruciformis 5

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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