Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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: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:0000590 | Progressive external ophthalmoplegia |
| HP:0000651 | Diplopia |
| HP:0001284 | Areflexia |
