Palmoplantar keratoderma and congenital alopecia 1

Preferred Label : Palmoplantar keratoderma and congenital alopecia 1;

Symbol : PPKCA1;

CISMeF acronym : PPKCA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Keratoderma-hypotrichosis-leukonychia totalis syndrome; Ppkca, stevanovic type;

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 (212360) shows progressive hyperkeratosis resulting in sclerosis, severe contractures and tapering of the digits, and pseudoainhum formation. The less severe autosomal dominant disorder, described here, does not have significant hand complications, although keratosis is present.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-1 gap junction protein gene (GJA1, 121014.0023);

Prefixed ID : #104100;

Details

Origin ID

104100;

UMLS CUI

C4304669;

Automatic exact mappings (from CISMeF team)
- palmoplantar keratoderma and congenital alopecia 1 [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant palmoplantar keratoderma and congenital alopecia [ORDO Disease]
- alopecia congenita keratosis palmoplantaris [MeSH Supplementary Concept]
- patel bixler syndrome [MeSH Supplementary Concept]
DO Cross reference
- palmoplantar keratoderma and congenital alopecia 1 [DO Concept]
Genes related to phenotype
- Gap junction protein, alpha-1 [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brittle hair [HPO term]
- Congenital onset [HPO term]
- Epidermal hyperkeratosis [HPO term]
- Hyperkeratosis [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Keratosis pilaris [HPO term]
- Leukonychia [HPO term]
- Nail dysplasia [HPO term]
- Palmoplantar erythema [HPO term]
- Palmoplantar keratoderma [HPO term]
- Plantar hyperkeratosis [HPO term]
- Sparse eyebrow [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Autosomal dominant palmoplantar keratoderma and congenital alopecia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) [SNOMED CT concept]

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