Palmoplantar keratoderma and congenital alopecia 2

Preferred Label : Palmoplantar keratoderma and congenital alopecia 2;

Symbol : PPKCA2;

CISMeF acronym : CASS; PPKCA2;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Ppkca, wallis type; CASS; Cataract-alopecia-sclerodactyly syndrome;

Description : In a review of ectodermal dysplasia syndromes characterized by palmoplantar keratoderma (PPK) and congenital alopecia, Castori et al. (2010) suggested that there are 2 main types of unclassified syndromes that combine these 2 features. A more severe recessive disorder shows progressive hyperkeratosis resulting in sclerosis, severe contractures and tapering of the digits, and pseudoainhum formation. The less severe autosomal dominant disorder (104100) does not have significant hand complications, although keratosis is present.;

Inheritance : Autosomal recessive;

Prefixed ID : 212360;

Details

Origin ID

212360;

UMLS CUI

C1859316;

Currated CISMeF NLP mapping
- Autosomal recessive palmoplantar keratoderma and congenital alopecia [ORDO Disease]
- Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) [SNOMED CT concept]
- Cataract - alopecia - sclerodactyly [ICD-11 More detail]
- Cataract, alopecia, sclerodactyly [MeSH concept]
- cataract, alopecia, sclerodactyly [MeSH Supplementary Concept]
DO Cross reference
- palmoplantar keratoderma and congenital alopecia 2 [DO Concept]
HPO term(s)
- Alopecia totalis [HPO term]
- Amniotic constriction ring [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly of finger [HPO term]
- Developmental cataract [HPO term]
- Dry skin [HPO term]
- Facial erythema [HPO term]
- Hyperkeratosis [HPO term]
- Keratosis pilaris [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Sclerodactyly [HPO term]
ORDO concept(s)
- Autosomal recessive palmoplantar keratoderma and congenital alopecia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive palmoplantar keratoderma and congenital alopecia [ORDO Disease]
- Cataract, alopecia, sclerodactyly [MeSH concept]
- cataract, alopecia, sclerodactyly [MeSH Supplementary Concept]
- palmoplantar keratoderma and congenital alopecia 2 [DO Concept]

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