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

20 clinical trials for this condition and its sub-types, 3 tagged with Mitochondrial DNA depletion syndrome itself.

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Where it sits in the disease tree

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↑ Mitochondrial oxidative phosphorylation disorder (58)

Sub-types of Mitochondrial DNA depletion syndrome

Mitochondrial DNA depletion syndrome, myopathic form 4 trials
Mitochondrial DNA depletion syndrome, hepatocerebral form 0 trials · 4 incl. sub-types
5 sub-types
AFG3L2-related optic atrophy and/or spastic ataxia spectrum 0 trials
2 sub-types
- Optic atrophy 12 0 trials
- Spastic ataxia 5 0 trials
Sengers syndrome 0 trials
Mitochondrial DNA deletion syndrome with progressive myopathy 0 trials
Mitochondrial DNA depletion syndrome 1 0 trials
Mitochondrial DNA depletion syndrome 11 0 trials
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant 0 trials
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive 0 trials
Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) 0 trials
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 0 trials
Mitochondrial DNA depletion syndrome 16 (hepatic type) 0 trials
Mitochondrial DNA depletion syndrome 17 0 trials
Mitochondrial DNA depletion syndrome 18 0 trials
Mitochondrial DNA depletion syndrome 19 0 trials
Mitochondrial DNA depletion syndrome 20 (mngie type) 0 trials
Mitochondrial DNA depletion syndrome 4b 0 trials
Mitochondrial DNA depletion syndrome, encephalomyopathic form 0 trials
4 sub-types
- Mitochondrial DNA depletion syndrome 13 0 trials
- Mitochondrial DNA depletion syndrome 8a 0 trials
- Mitochondrial DNA depletion syndrome 9 0 trials
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 trials
Mitochondrial dna depletion syndrome 14A (encephalomyopathic type) 0 trials
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type) 0 trials
Mitochondrial dna depletion syndrome 21 0 trials

Including sub-types (20) Tagged with Mitochondrial DNA depletion syndrome (3)

Not yet finished but already full! 2 Completed 1

Mitochondrial DNA depletion syndrome

Where it sits in the disease tree

New program aims to ease burden on families of kids with rare diseases

Massive gene hunt launched for mysterious mitochondrial diseases