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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
Hypomagnesemia 4, Renal (HOMG4)
Alias:
Renal Hypomagnesemia 4
Homg4
Hypomagnesemia, Renal, Normocalciuric
Renal Hypomagnesemia Normocalciuric
Hypomagnesemia, Type 4, Renal
Hypomagnesemia 4
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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
低镁血症4型肾病,又称肾性低镁血症4型,与癫痫、感觉神经性耳聋、共济失调、智力发育障碍、电解质失衡和远端型3型关节挛缩有关。与低镁血症4型肾病相关的基因是EGF(表皮生长因子),其相关通路/超级通路包括无机离子/阴离子和氨基酸/寡肽的运输以及离子通道运输。相关表型为癫痫和全球性发育迟缓。
Related ID:
MALACARDS:HYP302
OMIM:611718
MESH:D015499
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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9
58
3
HYP302
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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