OBO ID: DOID:0080119
Term Name: mitochondrial DNA depletion syndrome 1 Search Ontology:
Synonyms:
  • mitochondrial DNA depletion syndrome 1 (MNGIE type)
  • mitochondrial neurogastrointestinal encephalopathy syndrome
  • mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
Definition: 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 autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13. (5)
References:
Ontology: Human Disease   (DOID:0080119)
OTHER mitochondrial DNA depletion syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TYMP Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None