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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
Multicystic Dysplastic Kidney (MCDK)
Alias:
Multicystic Kidney Dysplasia
Multicystic Renal Dysplasia
Multiple Congenital Cysts of Kidney
Developmental Multicystic Kidney
Mcdk
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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
多囊性发育不良肾,也称为多囊肾发育不良,与CAKUT和先天性肾和尿路异常2有关。与多囊性发育不良肾有关的重要基因是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Bardet-Biedl综合征和向周细胞膜转运货物。在该疾病的背景下提到了麻醉药和局部麻醉药。附属组织包括肾和睾丸,相关表型为神经系统和肾/尿系统。
Related ID:
MALACARDS:MLT084
ICD11:1178642763
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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13
152
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MLT084
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
Name
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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IF
No Data Found!
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