palmoplantar keratoderma and congenital alopecia 1 (DOID:0111244)
Alliance: disease page
Synonyms: autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; autosomal dominant palmoplantar keratoderma and congenital alopecia; keratoderma-hypotrichosis-leukonychia totalis syndrome; palmoplantar keratoderma and congenital alopecia, Stevanovic type; PPK-CA, Stevanovic type; PPKCA1; PPKCA Stevanovic type
Alt IDs: OMIM:104100, MESH:C537050, ORDO:1010, UMLS_CUI:C1863093
Definition: 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.