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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
Primary Hyperoxaluria
Alias:
Hyperoxaluria, Primary
Hyperoxaluria
Oxalosis
Primary Oxalosis
Peroxisomal Alanine:glyoxylate Aminotransferase Deficiency
D-Glycerate Dehydrogenase Deficiency
Primary Hyperoxaluria, Type I
Primary Hyperoxaluria Type 2
Hepatic Agt Deficiency
Hyperoxaluria Primary
Congenital Oxaluria
Glycolic Aciduria
Glyceric Aciduria
Oxaluria, Primary
Primary Oxaluria
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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
原发性高草酸尿症,也称为高草酸尿症,主要类型ii和高草酸尿症,主要类型iii有关,症状包括骨痛。与原发性高草酸尿症相关的基因是AGXT(丙氨酸-草酰乙酸氨基转移酶),其相关通路/超级通路包括RNA聚合酶I启动子开放和减数分裂。在该疾病的背景下提到了达格列净和氢氯噻嗪。附属组织包括肾脏和肝脏,相关表型为草酸钙肾结石和高草酸尿症。
Related ID:
MALACARDS:PRM002
MESH:D006959
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
1-9/1000000
75
627
65
PRM002
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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