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 31 - 40 of 70 in total
HPO ID HPO Term
HP:0003387 Decreased number of large peripheral myelinated nerve fibers
HP:0003388 Easy fatigability
HP:0003401 Paresthesia
HP:0003431 Decreased motor nerve conduction velocity
HP:0003448 Decreased sensory nerve conduction velocity
HP:0003477 Peripheral axonal neuropathy
HP:0004326 Cachexia
HP:0004396 Poor appetite
HP:0007108 Demyelinating peripheral neuropathy
HP:0007141 Sensorimotor neuropathy
Displaying 1 entry
Gene ID Gene Symbol Description
1890 TYMP thymidine phosphorylase

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Last updated: August 19, 2024