Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant

MONDO:0014959

Also known as:MTDPS12Amitochondrial DNA depletion syndrome 12A (cardiomyopathic type) ADmitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A

Overview

GeneticsAutosomal dominant · SLC25A4 (chr 4)

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: Decreased activity of mitochondrial complex III, Increased CSF lactate, Depletion of mitochondrial DNA in muscle tissue, and Decreased activity of mitochondrial complex IV and others; and common findings: Hyporeflexia, Organic aciduria, Decreased activity of mitochondrial complex I, and Thickened heart muscle (hypertrophic cardiomyopathy). 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3

Genetic Landscape

SLC25A4 function has not been fully characterized.

Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant is associated with mutations in the SLC25A4 gene on chromosome 4.

Diagnosis

Genetic testing for SLC25A4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 4 common features.

Data assembled from 4 of 12 sources · Last updated Sep 21, 2026, 4:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617184

Questions for Your Care Team

→Should I pursue genetic testing for SLC25A4, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features