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 1 - 10 of 70 in total
HPO ID HPO Term
HP:0000044 Hypogonadotropic hypogonadism
HP:0000407 Sensorineural hearing impairment
HP:0000508 Ptosis
HP:0000544 External ophthalmoplegia
HP:0000597 Ophthalmoparesis
HP:0000726 Dementia
HP:0000815 Hypergonadotropic hypogonadism
HP:0001155 Abnormality of the hand
HP:0001249 Intellectual disability
HP:0001394 Cirrhosis
Displaying 1 entry
Gene ID Gene Symbol Description
1890 TYMP thymidine phosphorylase

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Last updated: August 19, 2024