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:
MESH:D052177
ICD11:1435131505

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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121
1102
3

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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