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Metadata
ID DOID:0080119
Name mitochondrial DNA depletion syndrome 1
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.
https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome, https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease, https://www.ncbi.nlm.nih.gov/pubmed/19056268, https://www.ncbi.nlm.nih.gov/pubmed/20301358, https://www.omim.org/entry/603041
Xrefs

GARD:9920

MESH:C536350

MIM:603041

NCI:C11967

ORDO:298

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

mitochondrial DNA depletion syndrome 1 (MNGIE type) [EXACT]

mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related [EXACT]

Parent Relationships

is_a mitochondrial DNA depletion syndrome

is_a autosomal recessive disease

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