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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
3-Methylglutaconic Aciduria, Type V (MGCA5)
Alias:
3-Methylglutaconic Aciduria Type 5
Mga5
Dilated Cardiomyopathy with Ataxia
Dcma Syndrome
Mgca5
Dcma
3-Methylglutaconic Aciduria Type V
Mga Type V
Dilated Cardiomyopathy with Ataxia Syndrome
3-Alpha-Methylglutaconic Aciduria Type 5
Cardiomyopathy, Dilated, with Ataxia
3-@methylglutaconic Aciduria, Type V
3-Methylglutaconic Aciduria 5
Dnajc19 Defect
Mga, Type V
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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
3-甲基戊二酸尿症,类型V,也称为3-甲基戊二酸尿症类型5,与3-甲基戊二酸尿症类型I和巴特综合症有关,症状包括小脑共济失调和肌肉无力。与3-甲基戊二酸尿症,类型V相关的基因是DNAJC19(DNAJ热休克蛋白家族(Hsp40)成员C19),其相关通路/超级通路包括过氧化物酶体脂质代谢。相关组织包括心脏和睾丸,相关表型为共济失调和生长延迟。
Related ID:
MALACARDS:3MT014
OMIM:610198
MESH:D002311
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
--
19
71
9
3MT014
Medical Symptom
#
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
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Publications
No data available
References Literature
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IF
No Data Found!
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