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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
Pierson Syndrome (PIERS)
Alias:
Microcoria-Congenital Nephrosis Syndrome
Microcoria-Congenital Nephrotic Syndrome
Piers
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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
皮尔森综合症,又称微小肾病-先天性肾病综合症,与肾病综合症,类型5,伴有或不伴有眼部异常和肾病综合症,类型1有关,症状包括水肿。与皮尔森综合症有关的重要基因是LAMB2(层粘连蛋白亚基β2),其相关通路/超级通路包括ERK信号通路和整合素通路。附属组织包括眼睛和肾脏,相关表型为蛋白尿和肾病综合症。
Related ID:
MALACARDS:PRS055
OMIM:609049
MESH:C537185
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
23
190
25
PRS055
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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