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:

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

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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