KEGG   DISEASE: Palmoplantar keratoderma, Bothnian type
Entry
H02266                      Disease                                

Name
Palmoplantar keratoderma, Bothnian type
  Supergrp
Non-epidermolytic palmoplantar keratoderma [DS:H00723]
Palmoplantar keratoderma [DS:H01673]
Description
Palmoplantar keratoderma, Bothnian type (PPKB) is one of the non-epidermolytic palmoplantar keratoderma. PPKB was initially reported to be prevalent in the north of Sweden, along the Gulf of Bothnia. The clinical characteristics of PPKB include diffuse, homogeneous, and even palmoplantar hyperkeratosis with swollen stratum corneum, which distinctively exhibits a whitish spongy appearance upon exposure to water. PPKB is consistent the autosomal-dominant disorder caused by mutations in the aquaporin 5 gene, AQP5.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H02266  Palmoplantar keratoderma, Bothnian type
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H02266  Palmoplantar keratoderma, Bothnian type
Gene
AQP5 [HSA:362] [KO:K09867]
Other DBs
ICD-11: EC20.30
ICD-10: Q82.8
MeSH: C536173
OMIM: 600231
Reference
  Authors
Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundstrom A, Kelsell DP
  Title
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  Journal
Am J Hum Genet 93:330-5 (2013)
DOI:10.1016/j.ajhg.2013.06.008
Reference
  Authors
Cao X, Yin J, Wang H, Zhao J, Zhang J, Dai L, Zhang J, Jiang H, Lin Z, Yang Y
  Title
Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.
  Journal
J Invest Dermatol 134:284-287 (2014)
DOI:10.1038/jid.2013.302
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