A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) on chromosome 22q13. (DO)
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction
is comprised of a complex set of reactions and/or regulatory events, possibly involving
additional chemicals and/or gene products.
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | ClinVar Annotator: match by term: TYMP-related condition
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) | ClinVar Annotator: match by term: TYMP-related condition
ClinVar Annotator: match by term: MNGIE, TYMP-RELATED | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type)