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mitochondrial DNA depletion syndrome 16 (hepatic type) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial DNA depletion syndrome 16 (hepatic type)

MONDO:0032799

Also known as:MTDPS16

Overview

GeneticsAutosomal recessive · POLG2 (chr 17)

ResearchLimited published research (5 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: Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hypoplasia of the corpus callosum, and Anteverted nares and others.

Organ System	Phenotype Count	Example Features
Digestive system	7	Cholestasis, Enlarged liver (hepatomegaly), Abdominal distention

Genetic Landscape

POLG2 function has not been fully characterized.

Mitochondrial DNA depletion syndrome 16 (hepatic type) is associated with mutations in the POLG2 gene on chromosome 17.

Diagnosis

Genetic testing for POLG2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 20 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 16 (hepatic type).

5 publications have been identified in PubMed for mitochondrial DNA depletion syndrome 16 (hepatic type). Research spans Review / Meta-Analysis (80%) and Basic Science / Preclinical (20%).

Recent Publications

Gao K (2026). [PMID: 41526984](https://pubmed.ncbi.nlm.nih.gov/41526984/). *Cell Biosci*. [Basic Science / Preclinical]
Casas RB (2025). [PMID: 41453949](https://pubmed.ncbi.nlm.nih.gov/41453949/). *Cell Death Dis*. [Review / Meta-Analysis]
Wen H (2025). [PMID: 39788934](https://pubmed.ncbi.nlm.nih.gov/39788934/). *Signal Transduct Target Ther*. [Review / Meta-Analysis]
Nie L (2024). [PMID: 39095891](https://pubmed.ncbi.nlm.nih.gov/39095891/). *Reprod Biol Endocrinol*. [Review / Meta-Analysis]
Bittla P (2024). [PMID: 39439647](https://pubmed.ncbi.nlm.nih.gov/39439647/). *Cureus*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:28 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618528

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 16 (hepatic type)

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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