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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 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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19971 | Thymidine phosphorylase |
- The Human Phenotype Ontology
| 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 |
