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mitochondrial DNA depletion syndrome
Summary
- Synonym
-
- mtDNA depletion syndrome
- Definition
- A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.
- Super Class
- mitochondrial metabolism disease
External Links
- Disease Ontology
- DOID:0070329
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 50 | ACO2 | aconitase 2 | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1431 | CS | citrate synthase | |
| 1468 | SLC25A10 | solute carrier family 25 member 10 | |
| 1607 | DGKB | diacylglycerol kinase beta | |
| 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 |
Related Glycoprotein
