Darier-White Disease (DAR)

Alias:
Keratosis Follicularis
Darier Disease
Darier's Disease
Dar
Dd
Darier Disease, Acral Hemorrhagic Type
Darier Disease Acral Hemorrhagic Type
Darier Disease, Segmental
Darier Disease Segmental
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Darier-White Disease, also known as keratosis follicularis, is related to acrokeratosis verruciformis and keratosis, and has symptoms including seizures An important gene associated with Darier-White Disease is ATP2A2 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2), and among its related pathways/superpathways are Nervous system development and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Salicylic acid and Emollients have been mentioned in the context of this disorder. Affiliated tissues include skin and tongue, and related phenotypes are abnormality of the nail and hypermelanotic macule
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
1-9/100000
24
157
25

Medical Symptom

#
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
Year
IF
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