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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
非罕见病
Cystic Kidney Disease
Alias:
Renal Cyst
Simple Renal Cyst
Congenital Cystic Kidney Disease
Kidney Diseases, Cystic
Cystic Kidney Diseases
Bosniak 1 Cyst
Cystic Kidney
Kidney Cysts
Renal Cysts
Kidney Cyst
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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
囊性肾病,又名肾囊肿,与管间肾病、常染色体显性遗传1型和肾囊肿糖尿病综合征有关。囊性肾病相关的重要基因是PKD1(多囊蛋白1,瞬时受体电位通道相互作用),其相关通路/超通路包括细胞器生物发生和维护以及巴德-毕德综合症。在该疾病的背景下提到了Venglustat和酶抑制剂。附属组织包括肾脏和肝脏,相关表型为细胞迁移增加和肾/尿系统。
Related ID:
MALACARDS:CYS039
MESH:D052177
ICD11:1435131505
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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121
1102
3
CYS039
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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