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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
Hyperoxaluria, Primary, Type Ii (HP2)
Alias:
Primary Hyperoxaluria Type 2
D-Glycerate Dehydrogenase Deficiency
Glyoxylate Reductase/hydroxypyruvate Reductase Deficiency
L-Glyceric Aciduria
Oxalosis Ii
Hp2
Primary Hyperoxaluria, Type Ii
Glyceric Aciduria
Hyperoxaluria Primary Type Ii
Primary Hyperoxaluria Type Ii
Hyperoxaluria Primary 2
Ph2
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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II型,也称为原发性高草酸尿症II型,与d-甘油酸尿症和原发性高草酸尿症III型有关。与原发性高草酸尿症II型相关的基因是GRHPR(甘油醛和羟基丙酮酸还原酶),其相关通路/超级通路包括SLITs和ROBOs表达的调节和ATP/ITP代谢。药物Pharmaceutical Solutions已在该疾病的背景下被提及。相关组织包括肾脏和肝脏,相关表型为肾结石和肾钙化。
Related ID:
MALACARDS:HYP602
OMIM:260000
MESH:C536415
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
--
11
43
53
HYP602
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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