Erythrokeratodermia Variabilis Et Progressiva 1 (EKVP1)

Alias:
Erythrokeratodermia Variabilis
Erythrokeratodermia Variabilis Et Progressiva
Ekv
Greither Disease
Ekvp
Erythrokeratodermia Variabilis with Erythema Gyratum Repens
Erythrokeratodermia Variabilis, Mendes Da Costa Type
Erythrokeratodermia, Progressive Symmetric
Progressive Symmetric Erythrokeratodermia
Ekvp1
Psek
Erythrokeratodermia Figurata, Congenital Familial, in Plaques
Congenital Familial Erythrokeratodermia Figurata in Plaques
Progressive Symmetric Erythrokeratodermia, Gottron Type
Transgrediens Et Progrediens Palmoplantar Keratoderma
Keratosis Palmoplantaris Transgrediens Et Progrediens
Progressive Symmetrical Erythrokeratoderma of Gottron
Erythrokeratodermia Variabilis Mendes Da Costa Type
Erythrokeratodermia Variabilis of Mendes Da Costa
Erythrokeratodermia Progressiva Symmetrica
Erythrokeratodermia Symmetrica Progressiva
Erythrokeratodermia Progressive Symmetric
Keratoderma Palmoplantaris Transgrediens
Erythrokeratodermia Figurata Variabilis
Darier-Gottron Disease
Ekv-P
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Erythrokeratodermia Variabilis Et Progressiva 1, also known as erythrokeratodermia variabilis, is related to erythrokeratoderma and palmoplantar keratosis. An important gene associated with Erythrokeratodermia Variabilis Et Progressiva 1 is GJB3 (Gap Junction Protein Beta 3), and among its related pathways/superpathways are Vesicle-mediated transport and G-protein signaling G-Protein alpha-i signaling cascades. Affiliated tissues include skin and eye, and related phenotypes are microcephaly and short stature
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
--
41
298
17

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

Name
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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