palmoplantar keratoderma and congenital alopecia 1

Term ID

DOID:0111244

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
• PPKCA Stevanovic type
• PPKCA1

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. (2)

References

• GARD:604
• MESH:C537050
• MIM:104100
• ORDO:1010
• UMLS_CUI:C1863093

Ontology

Human Disease   ( DOID:0111244 )