mitochondrial DNA depletion syndrome 1

Term ID

DOID:0080119

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

• GARD:9920
• MESH:C536350
• MIM:603041
• NCI:C11967
• ORDO:298

Ontology

Human Disease   ( DOID:0080119 )