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mitochondrial DNA depletion syndrome 18 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial DNA depletion syndrome 18

MONDO:0032932

Also known as:MTDPS18

Overview

GeneticsAutosomal recessive · SLC25A21 (chr 14)

OnsetCHILDHOOD, JUVENILE

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: Clonus, Sideways curvature of the spine (scoliosis), Distal amyotrophy, and Areflexia and others.

Organ System	Phenotype Count	Example Features
Muscles	7	Distal muscle weakness, Weakness of facial musculature, Hand muscle atrophy

Genetic Landscape

SLC25A21 function has not been fully characterized.

Mitochondrial DNA depletion syndrome 18 is associated with mutations in the SLC25A21 gene on chromosome 14.

Diagnosis

Genetic testing for SLC25A21 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mitochondrial DNA depletion syndrome 18 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 17 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 18.

93 publications have been identified in PubMed for mitochondrial DNA depletion syndrome 18. Research spans Basic Science / Preclinical (49%), Review / Meta-Analysis (22%), and Case Report / Case Series (8%).

Research Type	Count	% of Total
Laboratory research	46	49%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618811

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 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

mitochondrial DNA depletion syndrome 18

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications