DISEASES

Disease-gene associations mined from literature

Human genes for palmoplantar keratoderma and congenital alopecia 1

Palmoplantar keratoderma and congenital alopecia 1 [DOID:0111244]

An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.

Synonyms:  palmoplantar keratoderma and congenital alopecia 1,  DOID:0111244,  autosomal dominant palmoplantar hyperkeratosis and congenital alopecia,  autosomal dominant palmoplantar keratoderma and congenital alopecia,  keratoderma-hypotrichosis-leukonychia totalis syndrome ...