Mitochondrial Dna Depletion Syndrome

Alias:
Mtdna Depletion Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Dna Depletion Syndrome, also known as mtdna depletion syndrome, is related to mitochondrial dna depletion syndrome 8a and mitochondrial dna depletion syndrome 13. An important gene associated with Mitochondrial Dna Depletion Syndrome is MPV17 (Mitochondrial Inner Membrane Protein MPV17), and among its related pathways/superpathways are Metabolism of nucleotides and Primary ovarian insufficiency. Affiliated tissues include liver and brain, and related phenotypes are adipose tissue and cellular
Related ID:
ICD11:1159345506

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
All ages
1-9/1000000
59
262
56

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

Name
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
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