H00684 | |
H number | H00684 |
Name | Pachyonychia congenita |
Description | Pachyonychia congenita (PC) is a group of autosomal dominant skin disorders characterized by hypertrophic nail dystrophy accompanied by other features of ectodermal dysplasia, prominently painful palmoplantar keratoderma. Additional clinical features include follicular hyperkeratosis, leukokeratosis of the oral mucosa, and various cysts (steatocysts and pilosebaceous cysts). It is caused by a mutation in one of four keratin genes KRT6A, KRT6B, KRT16, or KRT17. |
Category | Congenital malformation |
Network | - |
Gene | (PC1) KRT16 [HSA:3868] [KO:K07604] (PC2) KRT17 [HSA:3872] [KO:K07604] (PC3) KRT6A [HSA:3853] [KO:K07605] (PC4) KRT6B [HSA:3854] [KO:K07605] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD27.Y ICD-10: Q84.5 MeSH: D053549 OMIM: 167200 167210 615726 615728 |
Reference | PMID:21890491 AUTHORS McLean WH, Moore CB TITLE Keratin disorders: from gene to therapy. JOURNAL Hum Mol Genet 20:R189-97 (2011) DOI:10.1093/hmg/ddr379 PMID:21326300 AUTHORS Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ TITLE A large mutational study in pachyonychia congenita. JOURNAL J Invest Dermatol 131:1018-24 (2011) DOI:10.1038/jid.2011.20 PMID:7545493 AUTHORS Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ TITLE Mutation of a type II keratin gene (K6a) in pachyonychia congenita. JOURNAL Nat Genet 10:363-5 (1995) DOI:10.1038/ng0795-363 PMID:7539673 AUTHORS McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJ, Griffiths WA, Eady RA, Higgins C, et al. TITLE Keratin 16 and keratin 17 mutations cause pachyonychia congenita. JOURNAL Nat Genet 9:273-8 (1995) DOI:10.1038/ng0395-273 PMID:9618173 AUTHORS Smith FJ, Jonkman MF, van Goor H, Coleman CM, Covello SP, Uitto J, McLean WH TITLE A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. JOURNAL Hum Mol Genet 7:1143-8 (1998) DOI:10.1093/hmg/7.7.1143 |