Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads

Preferred Label : Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads;

Symbol : PLACK;

CISMeF acronym : PLACK;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calpastatin gene (CAST, 114090.0001);

Prefixed ID : #616295;

Details

Origin ID

616295;

UMLS CUI

C4225381;

Currated CISMeF NLP mapping
- Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder) [SNOMED CT concept]
- Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome [ORDO Disease]
Genes related to phenotype
- Calpastatin [OMIM gene]
HPO term(s)
- Angular cheilitis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Epidermal acanthosis [HPO term]
- Hyperkeratosis [HPO term]
- Leukonychia [HPO term]
- Onycholysis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Scaling skin [HPO term]
ORDO concept(s)
- Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients