mitochondrial DNA depletion syndrome 1

Summary
Synonym
  • mitochondrial DNA depletion syndrome 1 (MNGIE type)
  • 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.
Super Class
autosomal recessive disease mitochondrial DNA depletion syndrome
External Links
Disease Ontology
DOID:0080119
Mondo Disease Ontology
MeSH
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1890 TYMP thymidine phosphorylase
Displaying 1 entry
Gene ID Gene Symbol Description Source
72962 Tymp thymidine phosphorylase
Displaying 1 entry
Gene ID Gene Symbol Description Source
315219 Tymp thymidine phosphorylase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P19971 Thymidine phosphorylase
The Human Phenotype Ontology
Displaying entries 21 - 30 of 70 in total
HPO ID HPO Term
HP:0002460 Distal muscle weakness
HP:0002500 Abnormal cerebral white matter morphology
HP:0002579 Gastrointestinal dysmotility
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0002922 Increased CSF protein concentration
HP:0003128 Lactic acidosis
HP:0003199 Decreased muscle mass
HP:0003200 Ragged-red muscle fibers
HP:0003270 Abdominal distention
HP:0003348 Hyperalaninemia
Displaying 1 entry
Gene ID Gene Symbol Description
1890 TYMP thymidine phosphorylase

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Last updated: August 19, 2024