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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:0008049 | Abnormality of the extraocular muscles |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0009830 | Peripheral neuropathy |
| HP:0011024 | Abnormality of the gastrointestinal tract |
| HP:0012103 | Abnormality of the mitochondrion |
| HP:0012850 | Small intestinal dysmotility |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003621 | Juvenile onset |
| HP:0000590 | Progressive external ophthalmoplegia |
| HP:0003676 | Progressive |
