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Mitochondrial DNA depletion syndrome

MONDO:0018158

The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.

Also known as: mtDNA depletion syndrome

19 clinical trials for this condition and its sub-types.

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Sub-types

Mitochondrial DNA depletion syndrome 4a (3) Mitochondrial DNA depletion syndrome, myopathic form (3) Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) (1) AFG3L2-related optic atrophy and/or spastic ataxia spectrum (0) Mitochondrial DNA deletion syndrome with progressive myopathy (0) Mitochondrial DNA depletion syndrome 1 (0) Mitochondrial DNA depletion syndrome 11 (0) Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant (0) Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive (0) Mitochondrial DNA depletion syndrome 13 (0) Mitochondrial dna depletion syndrome 14A (encephalomyopathic type) (0) Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) (0) Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) (0) Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) (0) Mitochondrial DNA depletion syndrome 16 (hepatic type) (0) Mitochondrial DNA depletion syndrome 17 (0) Mitochondrial DNA depletion syndrome 18 (0) Mitochondrial DNA depletion syndrome 19 (0) Mitochondrial DNA depletion syndrome 20 (mngie type) (0) Mitochondrial dna depletion syndrome 21 (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn mitochondrial metabolism disorder (58) Inborn errors of metabolism (45) Mitochondrial disease (40) Human disease (14) Developmental defect during embryogenesis (8) Mitochondrial oxidative phosphorylation disorder (3) Disease of genetic or genomic mechanism (2)
Trials to join now! 6 Not yet recruiting 1 Not yet finished but already full! 8 Completed 3 Terminated 1
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