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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
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Alias:
Polycystic Kidney, Autosomal Dominant
Adpkd
Polycystic Kidney Diseases
Kidney, Polycystic, Disease, Autosomal Dominant
Polycystic Kidney Disease, Autosomal Dominant
Apckd - [autosomal Polycystic Kidney Disease]
Polycystic Kidney and Hepatic Disease 1
Adult Polycystic Kidney Disease
Polycystic Kidney, Adult Type
Congenital Biliary Ectasias
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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
常染色体显性多囊肾病,也称为多囊肾,常染色体显性,与伴有或不伴有多囊肝的多囊肾病1有关。与常染色体显性多囊肾病相关的重要基因是PKD2(多囊蛋白2,瞬时受体电位阳离子通道),其相关通路/超通路包括巴德-毕德综合症和纤毛病。在该疾病的背景下提到了血管紧张素II和坎地沙坦酯。附属组织包括肾脏和肝脏,相关表型为肾功能不全和肾囊肿
Related ID:
MALACARDS:ATS347
MESH:D007690
ICD11:91220434
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
1-5/10000
132
1202
293
ATS347
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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