KEGG   DISEASE: Palmoplantar keratoderma, Bothnian type
H02266                      Disease                                

Palmoplantar keratoderma, Bothnian type
Non-epidermolytic palmoplantar keratoderma [DS:H00723]
Palmoplantar keratoderma [DS:H01673]
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.
Congenital malformation
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
AQP5 [HSA:362] [KO:K09867]
Other DBs
ICD-11: EC20.30
ICD-10: Q82.8
MeSH: C536173
OMIM: 600231
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
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
Am J Hum Genet 93:330-5 (2013)
Cao X, Yin J, Wang H, Zhao J, Zhang J, Dai L, Zhang J, Jiang H, Lin Z, Yang Y
Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.
J Invest Dermatol 134:284-287 (2014)

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