Information on EV1

Basic details

Name: Epidermodysplasia verruciformis, susceptibility to, 1 | Acronym: EV1
Alt. names: epidermodysplasia verruciformis

Gene: TMC6 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2002

Last updated on: 2023-05-17 17:25:50 by

OMIM: 226400

Orphanet: -

MONDO: 0009176

DOID: -

ClinGen:

Description

Individuals are at high-risk of developing skin cancers, and surveillance may be beneficial to allow early detection and treatment. Refs. PMIDs: 10084299; 10844558; 12426567

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

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.