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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
Renal Hypodysplasia/aplasia 1 (RHDA1)
Alias:
Renal Agenesis
Renal Adysplasia
Renal Aplasia
Hereditary Renal Aplasia
Rhda1
Congenital Absence of Kidneys Syndrome
Hypodysplasia/aplasia, Renal, Type 1
Hereditary Urogenital Adysplasia
Congenital Absence of Kidney
Aplastic Kidney
Hra
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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
肾发育不良/肾缺如1,也称为肾缺如,与弗雷泽综合征1和波特综合征有关。与肾发育不良/肾缺如1有关的重要基因是ITGA8(整合素α8亚基),其相关通路/超级通路包括GDNF家族配体和受体相互作用以及RET信号通路。该病的药物治疗中提到了Pharmaceutical Solutions。相关组织包括肾脏和子宫,相关表型为肾缺如和单侧肾缺如。
Related ID:
MALACARDS:RNL100
OMIM:191830
MESH:C563261
ICD11:683319223
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
胎儿期
1-5/10000
70
817
32
RNL100
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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