Palmoplantar Keratoderma, Epidermolytic, 1 (EPPK1)

Alias:
Epidermolytic Palmoplantar Keratoderma
Keratosis Palmaris Et Plantaris Familiaris
Keratoderma, Palmoplantar, Epidermolytic
Eppk
Diffuse Erythrodermic Palmoplantar Keratoderma, Voerner Type
Epidermolytic Palmoplantar Keratoderma of Voerner
Localized Epidermolytic Hyperkeratosis
Keratosis of Greither
Tylosis
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas
Diffuse Erythrodermic Palmoplantar Keratoderma, Vörner Type
Diffuse Erythrodermic Palmoplantar Keratoderma, Vorner Type
Palmoplantar Keratoderma, Epidermolytic, with Knuckle Pads
Epidermolytic Palmoplantar Keratoderma Vorner Type
Epidermolytic Palmoplantar Keratoderma of Vörner
Epidermolytic Palmoplantar Keratoderma of Vorner
Palmoplantar Keratoderma, Nonepidermolytic
Keratoderma, Epidermolytic Palmoplantar
Hyperkeratosis, Localized Epidermolytic
Unilateral Palmoplantar Verrucous Nevus
Palmoplantar Keratoderma, Epidermolytic
Palmoplantar Keratoderma, Vorner Type
Palmoplantar Keratoderma Vorner Type
Keratoderma, Palmoplantar, Diffuse
Epidermolytic Unna-Thost Disease
Hyperkeratosis
Type B Tylosis
Type a Tylosis
Eppk1
Ehppk
Ppke
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Palmoplantar Keratoderma, Epidermolytic, 1, also known as epidermolytic palmoplantar keratoderma, is related to palmoplantar keratoderma, nonepidermolytic, focal or diffuse and pseudomembranous conjunctivitis. An important gene associated with Palmoplantar Keratoderma, Epidermolytic, 1 is KRT9 (Keratin 9), and among its related pathways/superpathways are Nervous system development and Cytoskeletal Signaling. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include skin and breast, and related phenotypes are palmoplantar hyperkeratosis and epidermal hyperkeratosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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20
114
35

Medical Symptom

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

Gene & Mutation

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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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