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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 homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene (TYMP) 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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19971 | Thymidine phosphorylase |
- The Human Phenotype Ontology
| 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 |
