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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
Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant (MTDPS12A)
Alias:
Mtdps12a
Mitochondrial Dna Depletion Syndrome 12a, Cardiomyopathic Type, Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 12a, Cardiomyopathic Type
Mitochondrial Dna Depletion Syndrome 12a Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 12a Ad
Mi Dna Depletion Syndrome 12a Ad
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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
线粒体DNA耗竭综合症12a,常染色体显性型,也被称为mtdps12a。与线粒体DNA耗竭综合症12a,常染色体显性型相关的基因是SLC25A4(溶质载体家族25成员4)。相关表型是增加的CSF乳酸和乳酸酸中毒。
Related ID:
MALACARDS:MTC139
OMIM:617184
MESH:D017240
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
9
1
MTC139
Medical Symptom
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Categorization
Description
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Orphanet Frequency
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No data available
Gene & Mutation
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Gene
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No data available
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No data available
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Name
MGI
Related Gene
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Publications
No data available
References Literature
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Journal
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IF
No Data Found!
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