EPIDERMODYSPLASIA VERRUCIFORMIS

General Information (adopted from Orphanet):

Synonyms, Signs: EVER
EV
Number of Symptoms 4
OrphanetNr:
OMIM Id: 226400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002671) Basal cell carcinoma 18 / 7739
2
(OMIM) Verrucae planae 1 / 7739
3
(OMIM) Epidermal cell vacuolization 1 / 7739
4
(MedDRA:10052339) Epidermodysplasia verruciformis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated with a high risk of skin cancer (Ramoz et al., 2000). EV results from an abnormal susceptibility to specific related human papillomavirus (HPV) genotypes and to the oncogenic potential of ...
Clinical Description OMIM The lesions often resemble verrucae planae (Sullivan and Ellis, 1939). The mucous membranes, hair, and nails are not affected. Malignant degeneration, usually of the superficial basal cell type, is frequent. Characteristic changes in the epidermal cells with peculiar ...
Molecular genetics OMIM Ramoz et al. (2002) studied 2 Algerian and 2 Colombian consanguineous families who had been previously described (Ramoz et al., 1999; Ramoz et al., 2000) and an additional EV1-linked Algerian family in which an individual was affected with ...