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Human Disease

palmoplantar keratoderma and congenital alopecia 2

Term ID
DOID:0111245
Synonyms
  • autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
  • autosomal recessive palmoplantar keratoderma and congenital alopecia
  • CASS
  • cataract-alopecia-sclerodactyly syndrome
  • palmoplantar keratoderma and congenital alopecia, Wallis type
  • PPK-CA, Wallis type
  • PPKCA Wallis type
  • PPKCA2
Definition
An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. https://www.ncbi.nlm.nih.gov/pubmed/20635335
References
Ontology
Human Disease   ( DOID:0111245 )
Relationships
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Genes Involved
Zebrafish Models