Information on EV3

Basic details

Name: Epidermodysplasia verruciformis, susceptibility to, 3 | Acronym: EV3
Alt. names:

Gene: CIB1 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2018

Last updated on: 2023-02-28 16:41:18 by

OMIM: 618267

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Among other findings, individuals have been described as being at increased risk of nonmelanoma skin cancer (as well as other skin neoplasms), and awareness have allowed increased surveillance and management. Refs. PMIDs: 28646613; 30068544

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported
1 Wartsarrow icon 24 (99.9%) 0 (0.0%) 0 (0.0%)
2 Childhood onsetarrow icon 16 (69.6%) 0 (0.0%) 7 (30.4%)
3 Squamous cell carcinomaarrow icon 14 (66.7%) 0 (0.0%) 7 (33.3%)
4 Juvenile onsetarrow icon 6 (26.1%) 0 (0.0%) 17 (73.9%)
5 Basal cell carcinomaarrow icon 3 (12.5%) 0 (0.0%) 21 (87.5%)
6 Young adult onsetarrow icon 1 (4.4%) 0 (0.0%) 22 (95.7%)

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.