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mitochondrial DNA depletion syndrome 20 (mngie type) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial DNA depletion syndrome 20 (mngie type)

MONDO:0030696

Also known as:MTDPS20mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-related

Overview

GeneticsAutosomal recessive · LIG3 (chr 17)

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: Intestinal pseudo-obstruction, Headache, and Multiple mitochondrial DNA deletions; and very common findings: Diffuse leukoencephalopathy. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Difficulty swallowing (dysphagia), Diffuse leukoencephalopathy, Headache

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LIG3 encodes DNA ligase 3 (1,009 aa). Isoform 3 functions as a heterodimer with DNA-repair protein XRCC1 in the nucleus and can correct defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents. Highest expression in Testis (31.8 TPM) and Uterus (24.8 TPM).

Mitochondrial DNA depletion syndrome 20 (mngie type) is associated with mutations in the LIG3 gene on chromosome 17.

The LIG3 protein participates in LIG3-mediated DNA ligation via the single-nucleotide replacement pathway and Ligation of newly synthesized repair patch to incised DNA in GG-NER pathways.

LIG3 is classified as a druggable target with score 0.6.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for LIG3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mitochondrial DNA depletion syndrome 20 (mngie type) has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 4 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 20 (mngie type).

15 publications have been identified in PubMed for mitochondrial DNA depletion syndrome 20 (mngie type). Research spans Case Report / Case Series (40%), Basic Science / Preclinical (27%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	6	40%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619780

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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Kisho

mitochondrial DNA depletion syndrome 20 (mngie 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 20 (mngie 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