Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Pachyonychia congenita


Other Names for this Disease

  • Congenital pachyonychia
  • Pachyonychia congenita syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Cause

Newline Maker

What causes pachyonychia congenita?

This condition is caused by a mutation in one of four genes. Mutations in the KRT6A and KRT16 gene cause PC-1; mutations in KRT6B and KRT17 result in PC-2. These genes provide instructions for making a protein called keratin, which is found in the skin, hair, and nails. Mutations in any of these genes cause the features seen in pachyonychia congenita.[1]
Last updated: 5/10/2011

References
  1. Pachyonychia congenita. Genetics Home Reference. August 2012; http://ghr.nlm.nih.gov/condition/pachyonychia-congenita.


Other Names for this Disease
  • Congenital pachyonychia
  • Pachyonychia congenita syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.