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:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
--
19
71
9

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
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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