Vohwinkel Syndrome, Variant Form (VSI)

Alias:
Vohwinkel Syndrome with Ichthyosis
Loricrin Keratoderma
Mutilating Keratoderma with Ichthyosis
Camisa Disease
Keratoderma-Ichthyosiform Dermatosis-Elevated Beta-Glucuronidase Syndrome
Keratoderma Hereditarium Mutilans with Ichthyosis
Vohwinkel Syndrome Variant Form
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Vohwinkel Syndrome, Variant Form, also known as vohwinkel syndrome with ichthyosis, is related to skin disease and erythrokeratoderma. An important gene associated with Vohwinkel Syndrome, Variant Form is LORICRIN (Loricrin Cornified Envelope Precursor Protein). Affiliated tissues include skin and endothelial, and related phenotypes are palmoplantar hyperkeratosis and generalized ichthyosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
1
4
10

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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