Epidermodysplasia verruciformis, susceptibility to, 1

Preferred Label : Epidermodysplasia verruciformis, susceptibility to, 1;

Symbol : EV1;

CISMeF acronym : EV; EV1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EV; Epidermodysplasia verruciformis;

Description : 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 some of them, mainly HPV5. Infection with EV-associated HPV leads to the early development of disseminated flat wart-like and pityriasis versicolor-like lesions. Patients are unable to reject their lesions, and cutaneous Bowen carcinomas in situ and invasive squamous cell carcinomas develop in about half of them, mainly on sun-exposed areas.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane channel-like 6 gene (TMC6, 605828.0001): Caused by mutation in the transmembrane channel-like 8 gene (TMC8, 605829.0001);

Neoplasia : Basal cell carcinoma; Cutaneous Bowen carcinomas;

Laboratory abnormalities : Epidermal cell vacuolization;

Prefixed ID : #226400;

Details

Origin ID

226400;

UMLS CUI

C4722564;

False automatic mappings
- Electronvolt [NCIt concept]
- Ever [NCIt concept]
- NCI Enterprise Vocabulary Services [NCIt concept]
- electronvolt (qualifier value) [SNOMED CT concept]
Genes related to phenotype
- Transmembrane channel-like protein 6 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Basal cell carcinoma [HPO term]
- Verrucae [HPO term]
ORDO concept(s)
- Epidermodysplasia verruciformis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermodysplasia Verruciformis [NCIt concept]
- Epidermodysplasia verruciformis [ORDO Disease]
- Epidermodysplasia verruciformis [MedDRA Preferred Term]
- Epidermodysplasia verruciformis (disorder) [SNOMED CT concept]
- Lewandowsky-Lutz disease [MedDRA LLT]
- epidermodysplasia verruciformis [SNOMED Notion]
- epidermodysplasia verruciformis [MeSH Descriptor]
- epidermodysplasia verruciformis [MeSH concept]
- epidermodysplasia verruciformis [DO Concept]
- epidermodysplasia verruciformis [Disease (Nov.)]
Validated automatic mappings to NTBT
- Epidermodysplasia Verruciformis [NCIt concept]
- Epidermodysplasia verruciformis [ICD-11 More detail]
- Epidermodysplasia verruciformis [MedDRA Preferred Term]
- Epidermodysplasia verruciformis [ORDO Disease]
- Epidermodysplasia verruciformis (disorder) [SNOMED CT concept]
- Epidermodysplasia verruciformis Lewandowsky-Lutz [PASCAL descriptor]
- Lewandowsky-Lutz disease [MedDRA LLT]
- epidermodysplasia verruciformis [DO Concept]
- epidermodysplasia verruciformis [Disease (Nov.)]
- epidermodysplasia verruciformis [MeSH Descriptor]
- epidermodysplasia verruciformis [MeSH concept]
- epidermodysplasia verruciformis [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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