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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
deafness-dystonia-optic neuronopathy syndrome
Summary
- Synonym
-
- Deafness Dystonia Optic Atrophy Syndrome
- Deafness Dystonia Optic Neuronopathy Syndrome
- Dystonia Deafness Syndrome
- Jensen syndrome
- Mohr-Tranebjaerg syndrome
- deafness dystonia syndrome
- Definition
- A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.
- Super Class
- mitochondrial metabolism disease
External Links
- Disease Ontology
- DOID:0050757
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 231 | AKR1B1 | aldo-keto reductase family 1 member B | |
| 1113 | CHGA | chromogranin A | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4595 | MUTYH | mutY DNA glycosylase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 6392 | SDHD | succinate dehydrogenase complex subunit D |
Related Glycoprotein
