EV3
MCID: EPD085
MIFTS: 17

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 58
Epidermodysplasia Verruciformis, Susceptibility to, 3 58 6
Ev3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618267

Summaries for Epidermodysplasia Verruciformis 3

OMIM : 58 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)

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

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 epidermodysplasia verruciformis 1 10.2
2 carotid stenosis 10.2

Symptoms & Phenotypes for Epidermodysplasia Verruciformis 3

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Epidermodysplasia Verruciformis 3

Search Clinical Trials , NIH Clinical Center for Epidermodysplasia Verruciformis 3

Genetic Tests for Epidermodysplasia Verruciformis 3

Anatomical Context for Epidermodysplasia Verruciformis 3

MalaCards organs/tissues related to Epidermodysplasia Verruciformis 3:

42
Skin

Publications for Epidermodysplasia Verruciformis 3

Articles related to Epidermodysplasia Verruciformis 3:

# Title Authors Year
1
Epidermodysplasia verruciformis. 3. Ultraviolet micro-irradiation of cells in culture. ( 4840892 )
1974

Variations for Epidermodysplasia Verruciformis 3

ClinVar genetic disease variations for Epidermodysplasia Verruciformis 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CIB1 NM_006384.3(CIB1): c.248_249del (p.Lys83Argfs) deletion risk factor GRCh38 Chromosome 15, 90231454: 90231455
2 CIB1 NM_006384.3(CIB1): c.248_249del (p.Lys83Argfs) deletion risk factor GRCh37 Chromosome 15, 90774686: 90774687
3 CIB1 NM_006384.3(CIB1): c.465+1dup duplication risk factor GRCh37 Chromosome 15, 90774326: 90774326
4 CIB1 NM_006384.3(CIB1): c.465+1dup duplication risk factor GRCh38 Chromosome 15, 90231094: 90231094
5 CIB1 NM_006384.3(CIB1): c.548_549dup (p.Ala184Leufs) duplication risk factor GRCh37 Chromosome 15, 90774171: 90774172
6 CIB1 NM_006384.3(CIB1): c.548_549dup (p.Ala184Leufs) duplication risk factor GRCh38 Chromosome 15, 90230939: 90230940
7 CIB1 NM_006384.3(CIB1): c.214C> T (p.Arg72Ter) single nucleotide variant risk factor GRCh37 Chromosome 15, 90774721: 90774721
8 CIB1 NM_006384.3(CIB1): c.214C> T (p.Arg72Ter) single nucleotide variant risk factor GRCh38 Chromosome 15, 90231489: 90231489
9 CIB1 NM_001277764.1(CIB1): c.52-2A> G single nucleotide variant risk factor GRCh38 Chromosome 15, 90233705: 90233705
10 CIB1 NM_001277764.1(CIB1): c.52-2A> G single nucleotide variant risk factor GRCh37 Chromosome 15, 90776937: 90776937

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
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47 MGI
50 NCI
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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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