DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for palmoplantar keratoderma and congenital alopecia 2

Palmoplantar keratoderma and congenital alopecia 2 [DOID:0111245]

An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.

Synonyms:  palmoplantar keratoderma and congenital alopecia 2,  DOID:0111245,  CASS,  PPK-CA, Wallis type,  PPKCA Wallis type ...