mitochondrial DNA depletion syndrome
Findings
No curated finding names mitochondrial DNA depletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018158), read 2026-09-29. CC BY 4.0.
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (21)
- AFG3L2-related optic atrophy and/or spastic ataxia spectrum
- mitochondrial DNA deletion syndrome with progressive myopathy
- mitochondrial DNA depletion syndrome 1
- mitochondrial DNA depletion syndrome 11
- mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
- mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
- mitochondrial dna depletion syndrome 14A (encephalomyopathic type)
- mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type)
- mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
- mitochondrial DNA depletion syndrome 16 (hepatic type)
- mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
- mitochondrial DNA depletion syndrome 17
- mitochondrial DNA depletion syndrome 18
- mitochondrial DNA depletion syndrome 19
- mitochondrial DNA depletion syndrome 20 (mngie type)
Other names
1 name
Resolves to: mitochondrial DNA depletion syndrome
- Also called
- mtDNA depletion syndrome