Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive (MTDPS12B)

Alias:
Mtdps12b
Mitochondrial Dna Depletion Syndrome 12b, Cardiomyopathic Type, Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 12b, Cardiomyopathic Type
Mitochondrial Dna Depletion Syndrome 12b Ar
Mitochondrial Dna Depletion Syndrome, Type 12
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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12b,常染色体隐性,也被称为mtdps12b。与线粒体DNA耗竭综合症12b,常染色体隐性相关的关键基因是SLC25A4(溶质载体家族25成员4)。相关组织包括骨骼肌和心脏,相关表型包括恶心和呕吐以及白内障。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
9
11

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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