Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 (FNEPPK1)

Alias:
Isolated Focal Non-Epidermolytic Palmoplantar Keratoderma
Focal Nonepidermolytic Palmoplantar Keratoderma
Fneppk1
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas
Palmoplantar Keratoderma, Nonepidermolytic, Focal
Keratoderma, Focal Nonepidermolytic Palmoplantar
Ppkfne
Keratoderma, Palmoplantar, Nonepidermolytic, Focal, Type 1
Keratoderma, Palmoplantar, Non-Epidermolytic, Focal 1
Focal Nonepidermolytic Palmoplantar Keratoderma 1
Fneppk
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1, also known as isolated focal non-epidermolytic palmoplantar keratoderma, is related to palmoplantar keratoderma, nonepidermolytic, focal or diffuse and palmoplantar keratosis. An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 is KRT16 (Keratin 16), 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 palmoplantar keratoderma and follicular hyperkeratosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
13
73
6

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
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IF
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