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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
Keratosis Pilaris Atrophicans (KPA)
Alias:
Kpa
Burnett Schwartz Berberian Syndrome
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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
毛周角化病萎缩型,又称KPA,与角化病和角化病毛囊角化病脱毛型有关。与毛周角化病萎缩型相关的基因是LRP1(LDL受体相关蛋白1),其相关通路/超级通路包括代谢和未折叠蛋白质反应(UPR)。相关组织包括皮肤,相关表型为红斑和智力障碍
Related ID:
MALACARDS:KRT047
OMIM:604093
MESH:D007642
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
15
83
5
KRT047
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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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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