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GTR Home > Conditions/Phenotypes > Mitochondrial DNA depletion syndrome 20 (mngie type)

Mitochondrial DNA depletion syndrome 20 (mngie type)

Synonyms
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME, LIG3-RELATED

Summary

Mitochondrial DNA depletion syndrome-20 (MTDPS20) is an autosomal recessive multisystem disorder with variable manifestations and severity. Most patients develop symptoms in childhood, although the onset can range from infancy to the teenage years. Prominent features include severe gastrointestinal dysmotility often requiring parenteral nutrition, neurogenic bladder, and muscle weakness and atrophy. Neurologic involvement manifests as headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline. Brain imaging usually shows diffuse leukoencephalopathy and may show cerebellar atrophy. The disorder results from a defect in the maintenance and repair of mitochondrial DNA, resulting in mtDNA depletion and impaired mitochondrial function (summary by Bonora et al., 2021). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: LIG2, LIG3alpha, MTDPS20, LIG3
    Summary: DNA ligase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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