KEGG   DISEASE: Pachyonychia congenita
Entry
H00684                      Disease                                
Name
Pachyonychia congenita
  Subgroup
Jadassohn-Lewandowsky syndrome
Jackson-Lawler syndrome
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00684  Pachyonychia congenita
Pathway
hsa04915  Estrogen signaling pathway
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]
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
Reference
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
Reference
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
Reference
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
Reference
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

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Disease (4)   
   OMIM (4)   
Gene (6)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (4)   
Literature (5)   
   PubMed (5)   
All databases (15)   

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