Darier-White Disease (DAR)

Darier-White Disease(来自ICD-11)
别称:
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
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基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AD
Child
1-9/100000
24
157
25

疾病表征

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基因 & 突变

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靶点药物

药物名称
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研发状态
临床阶段
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疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
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文献报道

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