MCID: MTC033
MIFTS: 18
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Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form
Categories:
Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form:
Characteristics:Orphanet epidemiological data:59
mitochondrial dna depletion syndrome, encephalomyopathic form
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Classifications:External Ids:
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MalaCards based summary
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Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, also known as mtdna depletion syndrome, encephalomyopathic form, is related to mitochondrial dna depletion syndrome and mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria. An important gene associated with Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form is RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B), and among its related pathways/superpathways are Carbon metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle.
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Genetic tests related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form:
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Articles related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form:
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Search
GEO
for disease gene expression data for Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form.
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Pathways related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form according to GeneCards Suite gene sharing:
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Cellular components related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form according to GeneCards Suite gene sharing:
Biological processes related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form according to GeneCards Suite gene sharing:
Molecular functions related to Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form according to GeneCards Suite gene sharing:
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