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mitochondrial DNA depletion syndrome 15 (hepatocerebral type) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

MONDO:0014943

Also known as:TFAM mitochondrial DNA depletion syndromemitochondrial DNA depletion syndrome caused by mutation in TFAMMTDPS15

Overview

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.

GeneticsAutosomal recessive · TFAM (chr 10)

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: Hypermethioninemia, Cholestasis, Hepatic failure, and Hypertyrosinemia and others; and common findings: Lethargy, Elevated circulating alkaline phosphatase concentration, Liver scarring (cirrhosis) (cirrhosis), and Hypoalbuminemia and others.

Organ System	Phenotype Count	Example Features
Digestive system	8	Cholestasis, Hepatic failure, Liver scarring (cirrhosis) (cirrhosis)

Genetic Landscape

TFAM function has not been fully characterized.

Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) is associated with mutations in the TFAM gene on chromosome 10.

Diagnosis

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

Prognosis

Phenotype severity distribution: 10 always present features, 14 common 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 15 (hepatocerebral type).

10 publications have been identified in PubMed for mitochondrial DNA depletion syndrome 15 (hepatocerebral type). Research spans Basic Science / Preclinical (70%), Case Report / Case Series (20%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Laboratory research	7	70%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617156

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 15 (hepatocerebral type)

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 15 (hepatocerebral type)

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