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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
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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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
达里-怀特病,又称毛囊角化病,与角化性棘皮瘤和角化病有关,症状包括癫痫发作。与达里-怀特病有关的重要基因是ATP2A2(ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2),其相关通路/超级通路包括神经系统发育和无机离子/氨基酸/寡肽的运输。在该疾病的背景下提到了水杨酸和润肤剂。附属组织包括皮肤和舌头,相关表型为指甲异常和黑素性斑块。
Related ID:
MALACARDS:DRR014
OMIM:124200
MESH:D007644
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
1-9/100000
24
157
25
DRR014
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
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
Title
PMID
Journal
Year
IF
No Data Found!
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