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mitochondrial DNA depletion syndrome 19 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial DNA depletion syndrome 19

MONDO:0033545

Also known as:MTDPS19

Overview

GeneticsAutosomal recessive · SLC25A10 (chr 17)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hearing loss (hearing impairment), Hydrocele testis, Hypoplasia of the corpus callosum, and Increased circulating lactate concentration and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Multifocal epileptiform discharges, Dyskinesia, Spasticity

Genetic Landscape

SLC25A10 function has not been fully characterized.

Mitochondrial DNA depletion syndrome 19 is associated with mutations in the SLC25A10 gene on chromosome 17.

Diagnosis

Genetic testing for SLC25A10 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 16 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mitochondrial DNA depletion syndrome 19.

3 publications have been identified in PubMed for mitochondrial DNA depletion syndrome 19. Research spans Review / Meta-Analysis (67%) and Basic Science / Preclinical (33%).

Recent Publications

Anselme M (2025). [PMID: 41102706](https://pubmed.ncbi.nlm.nih.gov/41102706/). *J Transl Med*. [Review / Meta-Analysis]
D'Addabbo P (2025). [PMID: 41469700](https://pubmed.ncbi.nlm.nih.gov/41469700/). *J Transl Med*. [Basic Science / Preclinical]
Tian J (2024). [PMID: 38858380](https://pubmed.ncbi.nlm.nih.gov/38858380/). *Transl Psychiatry*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618972

GARD

Genetic and Rare Diseases Info Center

GARD:18370

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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mitochondrial DNA depletion syndrome 19

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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