Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse (PPKNEFD)

Alias:
Ppknefd
Autosomal Dominant Focal Non-Epidermolytic Palmoplantar Keratoderma with Plantar Blistering
Focal or Diffuse Nonepidermolytic Palmoplantar Keratoderma
Palmoplantar Keratoderma, Non-Epidermolytic, Focal or Diffuse
Keratoderma, Palmoplantar, Nonepidermolytic, Focal or Diffuse
Nonepidermolytic Focal or Diffuse Palmoplantar Keratoderma
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse, also known as ppknefd, is related to median rhomboid glossitis and white sponge nevus. An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic, Focal or Diffuse is KRT6C (Keratin 6C), and among its related pathways/superpathways are Nervous system development and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include skin, and related phenotypes are oral leukoplakia and palmoplantar keratoderma
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
8
45
4

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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