Acrokeratosis verruciformis

Preferred Label : Acrokeratosis verruciformis;

Symbol : AKV;

CISMeF acronym : AKV;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hopf disease;

Description : Acrokeratosis verruciformis of Hopf is a localized disorder of keratinization affecting the distal extremities. Onset occurs early in life (Dhitavat et al., 2003).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATPase, Ca transporting, slow-twitch, cardiac muscle-2 gene (ATP2A2, 108740);

Prefixed ID : #101900;

Details

Origin ID

101900;

UMLS CUI

C0265971;

Currated CISMeF NLP mapping
- Acrokeratosis Verruciformis [NCIt concept]
- Acrokeratosis verruciformis [PASCAL descriptor]
- Acrokeratosis verruciformis [MedDRA Preferred Term]
- Acrokeratosis verruciformis of Hopf [ORDO Disease]
- Acrokeratosis verruciformis of Hopf (disorder) [SNOMED CT concept]
- acrokeratosis verruciformis [DO Concept]
- acrokeratosis verruciformis [Disease (Nov.)]
- acrokeratosis verruciformis [SNOMED Notion]
- acrokeratosis verruciformis of hopf [MeSH concept]
DO Cross reference
- acrokeratosis verruciformis [DO Concept]
Genes related to phenotype
- Atpase, ca(2+)-transporting, slow-twitch [OMIM gene]
HPO term(s)
- Acrokeratosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Epidermal acanthosis [HPO term]
- Histological abnormality of the skin [HPO term]
- Hyperkeratosis [HPO term]
- Longitudinal ridging [HPO term]
- Ridged nail [HPO term]
Not associated HPO term(s)
- Acantholysis [HPO term]
ORDO concept(s)
- Acrokeratosis verruciformis of Hopf [ORDO Disease]
See also inter- (CISMeF)
- darier disease [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrokeratosis Verruciformis [NCIt concept]
- Acrokeratosis verruciformis [MedDRA Preferred Term]
- Acrokeratosis verruciformis [PASCAL descriptor]
- Acrokeratosis verruciformis of Hopf [ORDO Disease]
- Acrokeratosis verruciformis of Hopf (disorder) [SNOMED CT concept]
- acrokeratosis verruciformis [SNOMED Notion]
- acrokeratosis verruciformis [DO Concept]
- acrokeratosis verruciformis [Disease (Nov.)]
- acrokeratosis verruciformis of hopf [MeSH concept]

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