mitochondrial DNA depletion syndrome 1

Summary

DOID:0080119 - mitochondrial DNA depletion syndrome 1

Disease Ontology 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.

Synonyms: mitochondrial DNA depletion syndrome 1 (MNGIE type), mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: polg, tymp

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011283 - mitochondrial DNA depletion syndrome 1

MONDO:0011283 - mitochondrial DNA depletion syndrome 1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), mitochondrial DNA depletion syndrome (is_a), mitochondrial metabolism disease (is_a)