Palmoplantar Keratoderma, Bothnian Type (PPKB)

Alias:
Diffuse Palmoplantar Keratoderma, Bothnian Type
Ppkb
Keratoderma, Palmoplantar, Bothnian Type
Bothnian Type Palmoplantar Keratoderma
Palmoplantar Keratoderma, Nonepidermolytic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Palmoplantar Keratoderma, Bothnian Type, also known as diffuse palmoplantar keratoderma, bothnian type, is related to palmoplantar keratoderma, nonepidermolytic and palmoplantar keratosis. An important gene associated with Palmoplantar Keratoderma, Bothnian Type is AQP5 (Aquaporin 5), and among its related pathways/superpathways are Aquaporin-mediated transport and Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF). Affiliated tissues include skin and colon, and related phenotype is diffuse palmoplantar hyperkeratosis.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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11
56
3

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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